Details of the Researcher

PHOTO

Yoichi Wada
Section
Institute of Medical Research
Job title
Senior Assistant Professor
Degree

  • Ph.D. (Tohoku University)

Research History 10

  • 2025/04 - Present
    Tohoku University, SiRIUS Institute of Medical Research　Department of Medical Science and Innovation　Lecturer

  • 2025/04 - Present
    Tohoku University Hospital　Department of Pediatrics

  • 2024/10 - 2025/03
    Tohoku University　University Hospital Pediatrics　Assisstant Professor

  • 2023/09 - 2024/12
    National Institute of Health　National Human Genome Research Institute　Postdoctoral Visiting Fellow

  • 2023/09 - 2024/09
    Tohoku University

  • 2022/03 - 2023/09
    Tohoku University Prominent Research Fellow

  • 2019/04 - 2023/09
    Tohoku University　University Hospital Pediatrics

  • 2015/04 - 2019/03
    東北大学 大学院　小児病態学分野　大学院生

  • 2012/04 - 2015/03
    Kurashiki Central Hospital

  • 2010/04 - 2012/03
    Kurashiki Central Hospital

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Education 2

  • 東北大学大学院　医学系研究科　小児病態学分野

    2015/04 - 2019/03

  • Tohoku University　Faculty of Medicine　School of Medicine

    2004/04 - 2010/03

Committee Memberships 2

  • 日本マススクリーニング学会　評議員

    2023/09 - Present

  • Japanese Society for Inherited Metabolic Diseases　Councilor

    2022/09 - Present

Research Interests 6

  • Newborn screening

  • フェニルケトン尿症

  • Organic acidemia

  • Gene Therapy

  • ガラクトース血症

  • 先天代謝異常症

Research Areas 3

  • Life sciences / Genetics /

  • Life sciences / Metabolism and endocrinology /

  • Life sciences / Fetal medicine/Pediatrics /

Awards 7

  1. The JSPS Japanese Research Fellowship at NIH (KAITOKU-NIH)

    2024/03

  2. Young Investigator Award

    2023/10

  3. SSIEM Travel Scholarship

    2023/09　The Society for the Study of Inborn Errors of Metabolism

  4. 奨励賞

    2019/10　日本先天代謝異常学会

  5. トラベルアワード

    2019/10　日本先天代謝異常学会

  6. 荒川記念賞

    2019/03　東北大学 小児科

  7. Ivy Orator

    2012/03　倉敷中央病院

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Papers 50

  1. From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive PCCA pseudoexon Peer-reviewed

    Eriko Totsune, Yoichi Wada, Yasuko Mikami-Saito, Natsuko Arai-Ichinoi, Naoya Saijo, Jun Takayama, Yasuhiro Maeda, Yoko Nakajima, Osamu Ohara, Shigeo Kure, Atsuo Kikuchi

    Molecular Therapy Nucleic Acids　2026/06

    DOI： 10.1016/j.omtn.2026.102925 　

  2. Galactose mutarotase deficiency as the galactosemia type IV Invited Peer-reviewed

    Yoichi Wada, Yu Aihara, Yasuko Mikami-Saito, Tomohisa Suzuki, Ryoji Fujiki, Osamu Ohara, Atsuo Kikuchi, Shigeo Kure

    Journal of Human Genetics　2025/12/15

    DOI： 10.1038/s10038-025-01439-6 　

  3. Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan Peer-reviewed

    Yasuko Mikami-Saito, Yoichi Wada, Natsuko Arai-Ichinoi, Yoko Nakajima, Sayaka Suzuki-Ajihara, Kei Murayama, Toju Tanaka, Chikahiko Numakura, Takashi Hamazaki, Noboru Igarashi, Hiroyuki Esaki, Reiko Kagawa, Tomotaka Kono, Takaaki Sawada, Tomo Sawada, Hiromi Nyuzuki, Hiroki Hirai, Seiko Fumoto, Junko Matsuda, Ayako Matsunaga, Shinsuke Maruyama, Kenichiro Yamaguchi, Miwa Yoshino, Eriko Totsune, Atsuo Kikuchi, Toshihiro Ohura, Shigeo Kure

    Genetics in Medicine　101165-101165　2024/05

    Publisher: Elsevier BV

    DOI： 10.1016/j.gim.2024.101165 　

    ISSN： 1098-3600

  4. A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system. International-journal Peer-reviewed

    Yoichi Wada, Eriko Totsune, Yasuko Mikami-Saito, Atsuo Kikuchi, Toshio Miyata, Shigeo Kure

    Molecular genetics and metabolism reports　35　100970-100970　2023/06

    DOI： 10.1016/j.ymgmr.2023.100970 　

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    Phenylketonuria is an inborn error of phenylalanine metabolism caused by a phenylalanine hydroxylase deficiency. To prevent the occurrence of neurological symptoms and maternal complications resulting from phenylketonuria, patients must adhere to a strict diet therapy, tetrahydrobiopterin supplementation, or pegvaliase injection to maintain blood phenylalanine levels within a recommended range throughout their lives. Therefore, monitoring blood phenylalanine levels is necessary to determine the recent metabolic status of phenylalanine in patients with PKU; however, there are no available instruments for individuals to monitor their own blood phenylalanine levels using whole fingertip blood. We developed a phenylalanine monitoring system (designated as PheCheck) that included a pre-existing portable ammonia detection device and phenylalanine ammonia-lyase, which converts phenylalanine to trans-cinnamic acid and ammonia. This system was able to remove 86.7% ± 0.03% of the ammonia contained in fingertip blood and successfully reduce background ammonia levels. A good correlation was found between the estimated plasma phenylalanine levels detected by PheCheck and plasma phenylalanine levels detected by high-performance liquid chromatography (R2 0.97). The entire PheCheck process for measuring blood phenylalanine takes only 20 min. PheCheck can lay the foundation for home phenylalanine monitoring with high feasibility because all the components are easily accessible. Further studies with a more user-friendly PheCheck optimized for practice are needed to improve blood phenylalanine control, reduce the burden on patients and/or caregivers, and prevent the sequelae associated with phenylketonuria.

  5. β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency Peer-reviewed

    Yoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Shigeo Kure

    Journal of Inherited Metabolic Disease　45　(2)　2022/03

    Publisher: Wiley

    DOI： 10.1002/jimd.12444 　

    ISSN： 1573-2665 0141-8955

    eISSN： 1573-2665

  6. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice International-journal Peer-reviewed

    Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, Naoki Shimizu, Junya Ito, Ryo Onuma, Fumiyoshi Fujishima, Eriko Totsune, Ryo Sato, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Kota Sato, Toru Nakazawa, Keiko Nakayama, Yoko Aoki, Setsuya Aiba, Kiyotaka Nakagawa, Shigeo Kure

    PLOS Genetics　16　(2)　e1008628-e1008628　2020/02/26

    Publisher: Public Library of Science (PLoS)

    DOI： 10.1371/journal.pgen.1008628 　

    eISSN： 1553-7404

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    Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis pathway. Biallelic mutations in LSS have been reported in families with congenital cataracts and, very recently, have been reported in cases of hypotrichosis. However, it remains to be clarified whether these phenotypes are caused by LSS enzymatic deficiencies in each tissue, and disruption of LSS enzymatic activity in vivo has not yet been validated. We identified two patients with novel biallelic LSS mutations who exhibited congenital hypotrichosis and midline anomalies but did not have cataracts. We showed that the blockade of the LSS enzyme reaction occurred in the patients by measuring the (S)-2,3-epoxysqualene/lanosterol ratio in the forehead sebum, which would be a good biomarker for the diagnosis of LSS deficiency. Epidermis-specific Lss knockout mice showed neonatal lethality due to dehydration, indicating that LSS could be involved in skin barrier integrity. Tamoxifen-induced knockout of Lss in the epidermis caused hypotrichosis in adult mice. Lens-specific Lss knockout mice had cataracts. These results confirmed that LSS deficiency causes hypotrichosis and cataracts due to loss-of-function mutations in LSS in each tissue. These mouse models will lead to the elucidation of the pathophysiological mechanisms associated with disrupted LSS and to the development of therapeutic treatments for LSS deficiency.

  7. Biallelic GALM pathogenicvariants cause a novel type of galactosemia Peer-reviewed

    Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, Shigeo Kure

    Genetics in Medicine　21　(6)　1286-1294　2019/06

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41436-018-0340-x 　

    ISSN： 1098-3600

    eISSN： 1530-0366

  8. Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study. International-journal Peer-reviewed

    Yoichi Wada, Mahoko Furujo, Kenichi Kashimada, Takashi Hamazaki, Hiromi Nyuzuki, Keiko Ichimoto, Toshihiko Kakiuchi, Shirou Matsumoto, Yoriko Watanabe, Chiho Ono, Takako Shimizu, Hiroiku Furukawa, Kimitoshi Nakamura

    JIMD reports　67　(4)　e70082　2026/07

    DOI： 10.1002/jmd2.70082 　

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    Sodium phenylbutyrate (NaPBA) is used for nitrogen scavenging in urea cycle disorders (UCDs), but its volume, palatability, and sodium load affect adherence and ammonia control. Glycerol phenylbutyrate (GPB) offers an alternative option with demonstrated improvements in metabolic control and palatability. For a Japanese perspective, we undertook an open-label, multicentre, prospective Phase 3 study of efficacy, pharmacokinetics (PK), and safety. In a switch-over, 15 patients received NaPBA for 7 days, then GPB for 7 days. Primary endpoint: 24-h blood ammonia AUC (AUCNH3,0-24). Secondary endpoints: blood ammonia and glutamine concentration; PK of scavenger metabolites in blood and urine; safety. Patients then received GPB for up to 12 months. For GPB and NaPBA, respectively, mean (SD) AUCNH3,0-24 was 627 (198) and 757 (307) μmol·h/L (ratio 0.849; 95% CI 0.723-0.997). Mean peak and mean blood ammonia were 37 and 26 μmol/L versus 52 and 32 μmol/L. Mean plasma AUC0-24 for phenylbutyrate (PBA), phenylacetate (PAA), and phenylacetylglutamine (PAGN) were 470, 1420, and 836 versus 425, 984, and 741 μg·h/mL. Mean PBA metabolite fluctuation was 297% versus 366%. One adverse event (hyperammonaemia) led to discontinuation in each treatment arm. In the extension (n = 14), mean (SD) blood ammonia at Month 12 was 21 (8) μmol/L. No new safety findings were observed. GPB demonstrated effective control of blood ammonia with a favourable safety profile. It offers a practical and clinically advantageous alternative to NaPBA, extending previous evidence to Japanese individuals with UCDs. Trial registration: jRCT2071220110.

  9. Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots. International-journal

    Jun Kido, Hiromasa Nakashima, Johannes Häberle, Fumiko Nozaki, Naomi Yano, Keishin Sugawara, Masanari Hasegawa, Yoichi Wada, Chikahiko Numakura, Masaru Shimura, Hideo Sasai, Shunsaku Kaji, Yuichi Mushimoto, Kotaro Anan, Kimitoshi Nakamura

    Molecular genetics and metabolism　148　(2)　109912-109912　2026/03/27

    DOI： 10.1016/j.ymgme.2026.109912 　

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    BACKGROUND: Citrin deficiency is an autosomal recessive metabolic disorder caused by pathogenic variants in SLC25A13, which manifests as an age-dependent spectrum ranging from neonatal intrahepatic cholestasis (NICCD) to adolescent and adult citrin deficiency (AACD, formerly CTLN2). Early detection through newborn screening (NBS) would be a prerequisite for early treatment, but conventional NBS based on citrulline and other metabolite levels has only limited sensitivity. This study aimed to develop a simple and accurate quantitative real-time PCR (qPCR)-based newborn screening (NBS) method using dried blood spots (DBSs) as a first-tier screening test to detect the six most common SLC25A13 variants in Japan. METHODS: DBS samples from 1055 healthy newborns and 19 patients with confirmed variants were analyzed. Four variants (c.674C > A, c.852_855delTATG, c.1177 + 1G > A, and c.1311 + 1G > A) were screened using the TaqMan™ SNP genotyping system, and two large insertion/deletion variants (c.1638_1660dup and c.1750_1751[insNM_138459.3:2672_24;1750 + 72_1751-4dup]) were screened using a SYBR™ Green-based qPCR system with variant-specific primers. Results of qPCR were confirmed by Sanger sequencing. RESULTS: In all 19 known patients with citrin deficiency, the assay correctly identified the pathogenic alleles. Among 1055 newborns, heterozygous variants were detected in 19 cases (five c.852_855delTATG, thirteen c.1177 + 1G > A, and one c.1311 + 1G > A). The overall allele frequency (0.0090) was consistent with that reported in the Japanese genome database (jMorp, 0.0102), corresponding to an estimated carrier frequency of approximately 1 in 56 individuals. The assay reliably distinguished wild-type, heterozygous, and homozygous genotypes using a single DBS punch. CONCLUSION: We established a cost-effective, rapid, and reliable qPCR-based NBS system that detects the six most prevalent SLC25A13 variants using DBSs. This method is compatible with current NBS workflows and could improve early detection and intervention for citrin deficiency in Japan and, with adaptation of the target variants, in any other (not only) East Asian population.

  10. A Japanese Case of Infantile Liver Failure Syndrome Type 2 With Novel NBAS Variants. International-journal

    Tesshin Seino, Norimoto Kobayashi, Yoshiro Amano, Yoichi Wada, Daichi Sato, Jun Takayama, Atsuo Kikuchi

    Pediatrics international : official journal of the Japan Pediatric Society　68　(1)　e70456　2026

    DOI： 10.1111/ped.70456 　

  11. プロテオーム解析を用いたシトリン欠損症の新たなスクリーニング法の開発

    戸恒 恵理子, 中島 大輔, 紺野 亮, 川島 祐介, 小原 收, 齋藤 寧子, 市野井 那津子, 沼倉 周彦, 八木 弘子, 石毛 崇, 鈴木 保志朗, 笹井 英雄, 城戸 淳, 小林 弘典, 菊池 敦生, 濱崎 孝史, 大石 公彦, 中村 公俊, 和田 陽一

    日本マス・スクリーニング学会誌　35　(2)　218-218　2025/09

    Publisher: (一社)日本マススクリーニング学会

    ISSN： 0917-3803

  12. Carnitine Deficiency Caused by Salcaprozic Acid Sodium Contained in Oral Semaglutide in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency Peer-reviewed

    Yasuko Mikami-Saito, Masamitsu Maekawa, Masahiro Watanabe, Shinichiro Hosaka, Kei Takahashi, Eriko Totsune, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Shigeo Kure, Hideki Katagiri, Yoichi Wada

    International Journal of Molecular Sciences　26　(7)　2962-2962　2025/03/25

    Publisher: MDPI AG

    DOI： 10.3390/ijms26072962 　

    eISSN： 1422-0067

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    Carnitine plays an essential role in maintaining energy homeostasis and metabolic flexibility. Various medications, such as pivalate-conjugated antibiotics, valproic acid, and anticancer agents, can induce carnitine deficiency, inhibit the utilization of fatty acid, and contribute to the development of hypoglycemia. No studies have linked oral semaglutide to carnitine deficiency. Herein, we report the case of a 34-year-old male patient with multiple acyl-CoA dehydrogenase deficiency who developed carnitine deficiency attributable to salcaprozic acid sodium (SNAC) in oral semaglutide. The patient was diagnosed with type 2 diabetes mellitus at 32 years of age and was treated with semaglutide injections. Hypoglycemic symptoms appeared after switching to oral semaglutide, and the mean levels of blood-free carnitine significantly decreased. Liquid chromatography–tandem mass spectrometry analysis revealed a peak corresponding to the SNAC–carnitine complex (m/z 423.24) in the urine exclusively during the oral administration of semaglutide. The MS/MS spectra at m/z 423.24 contained peaks consistent with those of the SNAC and carnitine product ions. Our results suggest that through complexation with carnitine, SNAC may induce carnitine deficiency. Healthcare providers should monitor for carnitine deficiency when administering SNAC-containing medications to at-risk individuals. Furthermore, this case can raise more significant concerns about the potential impact of pharmaceutical excipients like SNAC on metabolic pathways.

  13. Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency. Peer-reviewed

    Ikeda N, Wada Y, Izumi T, Munakata Y, Katagiri H, Kure S

    Molecular genetics and metabolism reports　2024/01/26

    DOI： 10.1016/j.ymgmr.2024.101061 　

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    <h4>Background</h4>Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder caused by biallelic pathogenic variants in genes related to the flavoprotein complex. Dysfunction of the complex leads to impaired fatty acid oxidation and ketone body production which can cause hypoketotic hypoglycemia with prolonged fasting. Patients with fatty acid oxidation disorders (FAODs) such as MADD are treated primarily with a dietary regimen consisting of high-carbohydrate foods and avoidance of prolonged fasting. However, information on the long-term sequelae associated with this diet have not been accumulated. In general, high-carbohydrate diets can induce diseases such as type 2 diabetes mellitus (T2DM), although few patients with both MADD and T2DM have been reported.<h4>Case</h4>We present the case of a 32-year-old man with MADD who was on a high-carbohydrate diet for >30 years and exhibited symptoms resembling diabetic ketoacidosis. He presented with polydipsia, polyuria, and weight loss with a decrease in body mass index from 31 to 25 kg/m2 over 2 months. Laboratory tests revealed a HbA1c level of 13.9%; however, the patient did not show metabolic acidosis but only mild ketosis.<h4>Discussion/conclusion</h4>This report emphasizes the potential association between long-term adherence to high-carbohydrate dietary therapy and T2DM development. Moreover, this case underscores the difficulty of detecting diabetic ketosis in patients with FAODs such as MADD due to their inability to produce ketone bodies. These findings warrant further research of the long-term complications associated with this diet as well as warning of the potential progression of diabetes in patients with FAODs such as MADD.

  14. 先天性甲状腺機能低下症マススクリーニングガイドライン改訂における多胎児の2回目採血についての取り組み

    佐藤 裕子, 栗原 愛, 和田 陽一, 菅野 潤子

    日本マス・スクリーニング学会誌　33　(2)　249-249　2023/08

    Publisher: (一社)日本マススクリーニング学会

    ISSN： 0917-3803

  15. 血尿を伴うステロイド抵抗性ネフローゼ症候群を呈しIgM腎症と診断した9歳女児例

    千葉 優子, 内田 奈生, 久保 昭悟, 中川 智博, 和田 陽一, 島 彦仁, 川嶋 明香, 鈴木 大, 菅野 潤子

    日本小児科学会雑誌　127　(6)　891-891　2023/06

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  16. 急性腹症を呈して高張Na輸液を要した偽性低アルドステロン症

    田山 耕太朗, 小寺 麻実, 中川 智博, 和田 陽一, 島 彦仁, 川嶋 明香, 鈴木 大, 内田 奈生, 菅野 潤子, 菊池 敦生

    日本小児科学会雑誌　127　(6)　894-894　2023/06

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  17. ガラクトース血症IV型(ガラクトースムタロターゼ欠損症)の発見と疾患概念確立 Invited

    和田 陽一

    日本小児科学会雑誌　127　(5)　679-684　2023/05

  18. COVID-19流行の小児科専門研修への影響

    内田 奈生, 大田 千晴, 和田 陽一, 岩澤 伸哉, 笹原 洋二, 呉 繁夫

    日本小児科学会雑誌　127　(2)　294-294　2023/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  19. Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening

    Kido, J., H{\"a}berle, J., Tanaka, T., Nagao, M., Wada, Y., Numakura, C., Bo, R., Nyuzuki, H., Dateki, S., Maruyama, S., Murayama, K., Yoshida, S., Nakamura, K.

    Journal of Inherited Metabolic Disease　2023

    DOI： 10.1002/jimd.12673 　

    ISSN： 1573-2665 0141-8955

  20. Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on 5,10-methylenetetrahydrofolate reductase and multi-vitamin deficiency

    Fukae, J., Eguchi, H., Wada, Y., Fuse, A., Chishima, R., Nakatani, M., Nakajima, A., Hattori, N., Shimo, Y.

    Frontiers in Neurology　14　2023

    DOI： 10.3389/fneur.2023.1183306 　

    ISSN： 1664-2295

  21. Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency Peer-reviewed

    Meguro, M., Wada, Y., Kisou, Y., Sugawara, C., Akimoto, Y., Kure, S.

    Molecular Genetics and Metabolism Reports　33　100923-100923　2022/12

    Publisher: Elsevier BV

    DOI： 10.1016/j.ymgmr.2022.100923 　

    ISSN： 2214-4269

  22. 初回マススクリーニング陰性で遅発性TSH著明高値を呈した甲状腺機能低下症

    熊坂 衣織, 菅野 潤子, 三浦 啓暢, 和田 陽一, 梅木 郁美, 鈴木 大, 藤原 幾磨, 大浦 敏博, 呉 繁夫

    小児内科　54　(10)　1753-1758　2022/10

    Publisher: (株)東京医学社

    ISSN： 0385-6305

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    症例は在胎33週1日に出生した1745gの女児で、早産低出生体重児のため前医のNICUに入院となった。日齢5の初回新生児マススクリーニング(NBS)は陰性であったが、日齢28のNBSでは濾紙血TSHが高値を示したため、日齢35に当院へ紹介となった。初診時、血清TSH値やTg値が著明高値で、FT4が低値を示したことから、甲状腺機能低下症(CH)と診断された。L-T4の内服を行った結果、治療開始から1ヵ月後の日齢67には甲状腺機能が正常化した。生後5ヵ月現在、発達および発育に異常はみられていない。

  23. ガラクトース血症IV型に対する乳糖分解酵素剤は乳糖負荷による血中ガラクトース上昇を抑制する

    和田 陽一, 市野井 那津子, 菊池 敦生, 呉 繁夫

    日本先天代謝異常学会雑誌　38　126-126　2022/10

    Publisher: (一社)日本先天代謝異常学会

    ISSN： 0912-0122

  24. 新生児スクリーニング対象疾患等の診療体制の整備に関する研究(中村班報告)

    中村 公俊, 石毛 美夏, 伊藤 哲哉, 大石 公彦, 小須賀 基通, 高橋 勉, 但馬 剛, 長尾 雅悦, 濱崎 考史, 村山 圭, 伊藤 康, 児玉 浩子, 小林 弘典, 笹井 英雄, 清水 教一, 青天目 信, 羽田 明, 福田 冬季子, 村上 良子, 和田 陽一

    日本先天代謝異常学会雑誌　38　235-235　2022/10

    Publisher: (一社)日本先天代謝異常学会

    ISSN： 0912-0122

  25. 初回マススクリーニング陰性で遅発性TSH著明高値を呈した甲状腺機能低下症

    熊坂 衣織, 菅野 潤子, 三浦 啓暢, 和田 陽一, 梅木 郁美, 鈴木 大, 藤原 幾磨, 大浦 敏博, 呉 繁夫

    小児内科　54　(10)　1753-1758　2022/10

    Publisher: (株)東京医学社

    ISSN： 0385-6305

  26. Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening Peer-reviewed

    Suzuki, T., Wada, Y., Mikami-Saito, Y., Kikuchi, A., Kure, S.

    Molecular Genetics and Metabolism Reports　30　100834-100834　2022/03

    Publisher: Elsevier BV

    DOI： 10.1016/j.ymgmr.2021.100834 　

    ISSN： 2214-4269

  27. Clinical manifestation and long‐term outcome of citrin deficiency: report from a nationwide study in Japan International-journal

    Jun Kido, Johannes Häberle, Keishin Sugawara, Toju Tanaka, Masayoshi Nagao, Takaaki Sawada, Yoichi Wada, Chikahiko Numakura, Kei Murayama, Yoriko Watanabe, Kanako Kojima‐Ishii, Hideo Sasai, Kiyotaka Kosugiyama, Kimitoshi Nakamura

    Journal of Inherited Metabolic Disease　45　(3)　431-444　2022/02/10

    Publisher: Wiley

    DOI： 10.1002/jimd.12483 　

    ISSN： 0141-8955

    eISSN： 1573-2665

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    Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and dyslipidemia by citrin deficiency (FTTDCD), and adult-onset type II citrullinemia (CTLN2). As a nationwide study to investigate the clinical manifestations, medical therapy, and long-term outcome in Japanese patients with citrin deficiency, we collected clinical data of 222 patients diagnosed and/or treated at various different institutions between January 2000 and December 2019. In the entire cohort, 218 patients were alive while 4 patients (1 FTTDCD and 3 CTLN2) had died. All patients <20 years were alive. Patients with citrin deficiency had an increased risk for low weight and length at birth, and CTLN2 patients had an increased risk for growth impairment during adolescence. Liver transplantation has been performed in only 4 patients (1 NICCD, 3 CTLN2) with a good response thereafter. This study reports the diagnosis and clinical course in a large cohort of patients with citrin deficiency and suggests that early intervention including a low carbohydrate diet and MCT supplementation can be associated with improved clinical course and long-term outcome.

  28. Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency International-journal

    Takehiko Inui, Yoichi Wada, Moriei Shibuya, Natsuko Arai-Ichinoi, Yukimune Okubo, Wakaba Endo, Toshihiko Uchida, Noriko Togashi, Etsuo Naito, Kazuhiro Haginoya

    Brain and Development　44　(3)　244-248　2021/12

    Publisher: Elsevier BV

    DOI： 10.1016/j.braindev.2021.11.005 　

    ISSN： 0387-7604

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    BACKGROUND: Pyruvate dehydrogenase complex (PDHC) deficiency is an inborn error of metabolism that causes lactic acidosis and neurodevelopmental changes. Five causative genes have been identified: PDHA1, PDHB, DLAT, DLD, and PDHX. Four neurological phenotypes have been reported: neonatal encephalopathy with lactic acidosis, non-progressive infantile encephalopathy, Leigh syndrome, and relapsing ataxia. Of these, neonatal encephalopathy has the worst mortality and morbidity and there is no effective treatment. SUBJECTS AND METHODS: We studied two girls who were clinically diagnosed with PDHC deficiency as neonates; they were subsequently found to have PDHA1 mutations. The clinical diagnosis was based on white matter loss and a lateral ventricular septum on fetal MRI, spasticity of the lower extremities, and lactic acidosis worsening after birth. Intravenous ketogenic diets were started within 24 h after birth. The ketogenic ratio was increased until the blood lactate level was controlled, while monitoring for side effects. RESULTS: In both cases, the lactic acidosis improved immediately with no apparent side effects. Both children had better developmental outcomes than previously reported cases; neither exhibited epilepsy. CONCLUSIONS: Intravenous ketogenic diet therapy is a treatment option for neonatal-onset PDHC deficiency. Further studies are needed to optimize this therapy.

  29. The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

    Atsuo Kikuchi, Yoichi Wada, Toshihiro Ohura, Shigeo Kure

    International Journal of Neonatal Screening　7　(4)　68-68　2021/10/25

    Publisher: MDPI AG

    DOI： 10.3390/ijns7040068 　

    eISSN： 2409-515X

  30. LSS欠損症における組織特異的モデルマウスを用いた代謝および病理プロファイル

    和田 陽一, 菊池 敦生, 加賀 元宗, 清水 直紀, 伊藤 隼哉, 新堀 哲也, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 仲川 清隆, 呉 繁夫

    日本先天代謝異常学会雑誌　37　126-126　2021/09

    Publisher: (一社)日本先天代謝異常学会

    ISSN： 0912-0122

  31. Gingival Pigmentation in a boy International-journal

    Tomohiro Nakagawa, Yoichi Wada, Akinobu Miura, Yurika Numata-Uematsu, Hidetaka Niizuma, Shigeo Kure

    The Journal of Pediatrics　234　274-275　2021/07

    Publisher: Elsevier BV

    DOI： 10.1016/j.jpeds.2021.03.052 　

    ISSN： 0022-3476

  32. 色素沈着と低血糖を契機に診断された小児大脳型副腎白質ジストロフィーの1例

    中川 智博, 和田 陽一, 三浦 啓暢, 曽木 千純, 鈴木 大, 植松 有里佳, 菅原 典子, 菅野 潤子, 長坂 博範, 呉 繁夫

    日本小児科学会雑誌　125　(5)　835-835　2021/05

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  33. Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age International-journal

    Natsuko Arai‐Ichinoi, Atsuo Kikuchi, Yoichi Wada, Osamu Sakamoto, Shigeo Kure

    Journal of Inherited Metabolic Disease　2021/04/22

    Publisher: Wiley

    DOI： 10.1002/jimd.12390 　

    ISSN： 0141-8955

    eISSN： 1573-2665

    More details Close

    Citrin deficiency develops in different symptomatic periods from the neonatal period to adulthood. Some infantile patients are diagnosed by newborn mass screening or symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency, some patients in childhood may develop hepatopathy or dyslipidemia as failure to thrive and dyslipidemia caused by citrin deficiency, and some adults are diagnosed after developing adult-onset type 2 citrullinemia (CTLN2) with hyperammonemia or encephalopathy. A diagnosis is needed before the development of severe phenotypic CTLN2 but is often difficult to obtain because newborn mass screening cannot detect all patients with citrin deficiency, and undiagnosed patients often appear healthy in childhood. There are only a few reports that have described patients in childhood. To explore the clinical features of undiagnosed patients with citrin deficiency in childhood, we studied 20 patients who were diagnosed after the first year of life. Of these patients, 45% experienced hypoglycemic attacks in childhood. The acetoacetic acid level during hypoglycemic attacks was lower than expected. Growth failure at diagnosis (45%) was also noted. From the patients' history, fat- and protein-rich food preferences (80%), a low birth weight (70%), and prolonged jaundice or infantile hepatopathy (40%) were identified. To diagnose citrin deficiency in childhood, we should ask about food preferences and a history of infantile hepatopathy for all children with severe hypoglycemia or growth failure and consider the genetic test for citrin deficiency if the patient has characteristic food preferences or a history of infantile hepatopathy.

  34. Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan International-journal

    Jun Kido, Shirou Matsumoto, Johannes Häberle, Yoko Nakajima, Yoichi Wada, Narutaka Mochizuki, Kei Murayama, Tomoko Lee, Hiroshi Mochizuki, Yoriko Watanabe, Reiko Horikawa, Mureo Kasahara, Kimitoshi Nakamura

    Journal of Inherited Metabolic Disease　44　(4)　826-837　2021/04/18

    Publisher: Wiley

    DOI： 10.1002/jimd.12384 　

    ISSN： 0141-8955

    eISSN： 1573-2665

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    Urea cycle disorders (UCDs) are inherited metabolic disorders with impaired nitrogen detoxification caused by defects in urea cycle enzymes. They often manifest with hyperammonemic attacks resulting in significant morbidity or death. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to document all UCDs in Japan, including diagnoses, treatments, and outcomes. A total of 229 patients with UCDs were enrolled in this study: 73 males and 53 females with ornithine transcarbamylase deficiency (OTCD), 33 patients with carbamoylphosphate synthetase 1 deficiency, 48 with argininosuccinate synthetase deficiency, 14 with argininosuccinate lyase deficiency, and 8 with arginase deficiency. Survival rates at 20 years of age of male and female patients with late-onset OTCD were 100% and 97.7%, respectively. Blood ammonia levels and time of onset had a significant impact on the neurodevelopmental outcome (P < .001 and P = .028, respectively). Hemodialysis and liver transplantation did not prevent poor neurodevelopmental outcomes. While treatment including medication, hemodialysis, and liver transplantation may aid in decreasing blood ammonia and/or preventing severe hyperammonemia, a blood ammonia level ≥ 360 μmol/L was found to be a significant indicator for a poor neurodevelopmental outcome. In conclusion, although current therapy for UCDs has advanced and helped saving lives, patients with blood ammonia levels ≥ 360 μmol/L at onset often have impaired neurodevelopmental outcomes. Novel neuroprotective measures should therefore be developed to achieve better neurodevelopmental outcomes in these patients.

  35. 新規に同定したガラクトース血症IV型における国内頻度と臨床像に関する研究

    和田 陽一, 菊池 敦生, 岩澤 伸哉, 市野井 那津子, 小柴 生造, 呉 繁夫

    日本小児科学会雑誌　125　(2)　203-203　2021/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  36. 10歳時に全身色素沈着と低Na血症を契機に診断に至った先天性副腎低形成症の男児例

    篠崎 まみ, 菅野 潤子, 大場 周平, 熊坂 衣織, 三浦 啓暢, 和田 陽一, 市川 由香里, 島 彦仁, 鈴木 大, 梅木 郁美, 松橋 徹郎, 内田 奈生, 菅原 典子, 藤原 幾磨, 呉 繁夫

    日本小児科学会雑誌　125　(1)　92-92　2021/01

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  37. 多飲・多尿をきたさなかった劇症1型糖尿病の1例

    三浦 啓暢, 菅野 潤子, 熊坂 衣織, 篠崎 まみ, 和田 陽一, 梅木 郁美, 鈴木 大, 松橋 徹郎, 菅原 典子, 森本 哲司, 藤原 幾磨, 井上 重夫, 呉 繁夫

    日本小児科学会雑誌　125　(1)　93-93　2021/01

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  38. Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency International-journal

    Yasuko Mikami-Saito, Masamitsu Maekawa, Yoichi Wada, Tomoe Kanno, Ai Kurihara, Yuko Sato, Toshio Yamamoto, Natsuko Arai-Ichinoi, Shigeo Kure

    Molecular Genetics and Metabolism Reports　25　100674-100674　2020/12

    Publisher: Elsevier BV

    DOI： 10.1016/j.ymgmr.2020.100674 　

    ISSN： 2214-4269

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    Newborn screening is a public health care program worldwide to prevent patients from critical illness or conditions. Tandem mass spectrometry allows multiplex, inexpensive, and rapid newborn screening. However, mass spectrometry used for newborn screening to date is not able to separate peaks of compounds with similar m/z, which could lead to false-positive results without additional second-tier tests, such as fragmentation. We experienced three neonatal cases with high levels of markers, octanoylcarnitine and octanoylcarnitine/decanoylcarnitine ratio used to pick up possible cases of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The babies were born consecutively in a maternity hospital. Their second acylcarnitine profiles were normal, and the genetic tests for ACADM were negative. Analysis of samples extracted from their first Guthrie cards where blood was not stained also showed peaks equivalent to octanoylcarnitine and decanoylcarnitine, indicating contamination. Environmental surveillance in the maternity ward suggested that essential oils used there might contain the contaminated compound. LC-HRMS/MS and in silico analysis revealed that false-positive results might be due to contamination with the essential oils in Guthrie cards, and causal agents were sphinganine (d17:0) and 2-[2-hydroxyethyl(pentadecyl)amino]ethanol. Thus, health care providers should be cautioned about use of essential oils when collecting blood samples on Guthrie cards. False-positive results can waste costly social resources and cause a physical and psychological burden for children and parents.

  39. Hypoketotic hypoglycemia in citrin deficiency: a case report International-journal

    Yoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Osamu Sakamoto, Shigeo Kure

    BMC Pediatrics　20　(1)　444-444　2020/12

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1186/s12887-020-02349-6 　

    eISSN： 1471-2431

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    <title>Abstract</title> <sec> <title>Background</title> Citrin deficiency (CD) is a recessive metabolic disease caused by biallelic pathogenic variants in <italic>SLC25A13</italic>. Although previous studies have reported ketosis in CD, it was observed at the time of euglycemia or mild hypoglycemia. Blood ketone levels concomitant with symptomatic or severe hypoglycemia in CD have not been a topic of focus despite its importance in identifying the etiology of hypoglycemia and assessing the ability of fatty acid utilization. Herein, we describe a patient with CD who had repeated episodes of hypoglycemia with insufficient ketosis. </sec> <sec> <title>Case presentation</title> A 1-year-old boy with repetitive hypoglycemia was referred to us to investigate its etiology. The fasting load for 13 h led to hypoketotic hypoglycemia, indicating the possibility of partial β-oxidation dysfunction. A genetic test led to the diagnosis of CD. The hypoglycemic episodes disappeared after switching to a medium-chain triglyceride-containing formula. </sec> <sec> <title>Conclusions</title> This case report suggests that symptomatic or severe hypoglycemia in patients with CD could be associated with relatively low levels of ketone bodies, implying that β-oxidation in these patients might possibly be partially disrupted. When encountering a patient with hypoglycemia, clinicians should check blood ketone levels and bear in mind the possibility of CD because excessive intravenous administration of glucose can cause decompensated symptoms in patients with CD as opposed to other disorders presenting with hypoketotic hypoglycemia, such as fatty acid oxidation disorders. Further studies in a large-scale cohort are warranted to confirm our speculation. </sec>

  40. エッセンシャルオイルにより新生児マススクリーニングで中鎖アシルCoA脱水素酵素欠損症が偽陽性となった3例

    齋藤 寧子, 和田 陽一, 前川 正充, 呉 繁夫

    日本マス・スクリーニング学会誌　30　(2)　196-196　2020/09

    Publisher: 日本マススクリーニング学会

    ISSN： 0917-3803

  41. Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia

    Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, Shigeo Kure

    Genetics in Medicine　22　(7)　1281-1281　2020/07

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41436-020-0836-z 　

    ISSN： 1098-3600

    eISSN： 1530-0366

  42. 思春期年齢に到達したガラクトース血症IV型の2例

    沼倉 周彦, 和田 陽一, 菊池 敦生, 呉 繁夫, 三井 哲夫, 早坂 清

    日本マス・スクリーニング学会誌　29　(2)　199-199　2019/10

    Publisher: 日本マススクリーニング学会

    ISSN： 0917-3803

  43. GALM欠損症(ガラクトース血症IV型)の頻度推定 機能解析により評価したGALM変異データベース

    菊池 敦生, 岩澤 伸哉, 和田 陽一, 市野井 那津子, 坂本 修, 田宮 元, 呉 繁夫

    日本先天代謝異常学会雑誌　35　173-173　2019/09

    Publisher: (一社)日本先天代謝異常学会

    ISSN： 0912-0122

  44. GALMの両アレル性変異はガラクトース血症IV型を呈する

    和田 陽一, 菊池 敦生, 市野井 那津子, 坂本 修, 岩澤 伸哉, 竹澤 祐介, 新堀 哲也, 入月 浩美, 中島 葉子, 小川 えりか, 石毛 美夏, 平井 洋生, 笹井 英雄, 藤木 亮次, 伊藤 哲哉, 小原 收, 青木 洋子, 深尾 敏幸, 呉 繁夫

    日本先天代謝異常学会雑誌　35　114-114　2019/09

    Publisher: 日本先天代謝異常学会

    ISSN： 0912-0122

  45. 新生児マススクリーニングを契機に発見した遺伝性ガラクトース血IV型の2例

    入月 浩美, 和田 陽一, 市野井 那津子, 菊池 敦生, 小川 洋平, 長崎 啓祐, 呉 繁夫

    日本先天代謝異常学会雑誌　35　186-186　2019/09

    Publisher: 日本先天代謝異常学会

    ISSN： 0912-0122

  46. The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants International-journal

    Shinya Iwasawa, Atsuo Kikuchi, Yoichi Wada, Natsuko Arai-Ichinoi, Osamu Sakamoto, Gen Tamiya, Shigeo Kure

    Molecular Genetics and Metabolism　126　(4)　362-367　2019/04

    Publisher: Elsevier {BV}

    DOI： 10.1016/j.ymgme.2019.01.018 　

    More details Close

    Galactosemia is a metabolic disorder that affects the appropriate metabolism of β-D-galactose. Deficiencies in three of the enzymes of the Leloir pathway, namely, GALT, GALK1, or GALE, are characterized as type I, II, and III galactosemia, respectively. Recently, we reported a novel type of galactosemia (type IV galactosemia) due to biallelic GALM mutations. Genetic diagnosis is indispensable for diagnosing GALM deficiency because no biochemical diagnosis method has been established. Given that apparently pathogenic variants in GALM are found in public variant databases, we presumed the presence of pathogenic variants that have not been reported. In this study, we explore 67 GALM variants that are prevalent in the ExAC database, including 57 missense variants, 7 stop-gain variants, 2 frameshift variants, and 1 splice-site variant. We performed an in vitro expression assay and an enzyme activity assay. Among the 66 variants except for 1 splice-site variant, 29 produced no or faint protein expression and were judged as pathogenic variants. Furthermore, the remaining 37 variants were evaluated by enzyme activity assay. Two showed mildly reduced enzyme activity and were classified as benign. Based on our study, the estimated incidence of GALM deficiency is 1:228,411 in all populations, 1:10,388 in the African population, and 1:80,747 in the Japanese population. Our GALM mutation database is useful for the genetic diagnosis of GALM deficiency.

  47. 小児食道異物に対しバルーンカテーテルを用いた1例

    武澤 衛, 和田 陽一, 綾 邦彦

    78　195-197　2016/03

  48. 先天性心疾患術前にCHDFを用いて水分管理を行った1新生児例

    澤田 真理子, 和田 陽一, 林 知宏, 出来 沙織, 好川 貴久, 田中 紀子, 齋藤 真澄, 久保田 真通, 高橋 章仁, 綾 邦彦, 藤原 充弘, 渡部 晋一, 武田 修明, 脇 研自, 新垣 義夫

    35　213-216　2015/07

  49. 急性散在性脳脊髄炎の1例とその診断に関する検討

    小坂田 皓平, 和田 陽一, 脇 研自, 新垣 義夫

    倉敷中央病院年報　77　219-223　2015/03

  50. 経時的なGram染色によって早期に抗菌薬の効果を確認できたHaemophilus influenzae細気管支炎の1例

    和田 陽一, 國政 啓, 石田 直

    倉敷中央病院年報　74　263-267　2012/03

Show all ︎Show first 5

Misc. 14

  1. Nationwide survey of galactosemia type IV in Japan

    齋藤寧子, 和田陽一, 市野井那津子, 中島葉子, 味原さや香, 村山圭, 菊池敦生, 大浦敏博, 呉繁夫

    日本マススクリーニング学会誌　34　(2)　2024

    ISSN： 0917-3803

  2. GALMの両アレル性変異はガラクトース血症IV型を呈する

    和田 陽一, 菊池 敦生, 市野井 那津子, 坂本 修, 岩澤 伸哉, 竹澤 祐介, 新堀 哲也, 入月 浩美, 中島 葉子, 小川 えりか, 石毛 美夏, 平井 洋生, 笹井 英雄, 藤木 亮次, 伊藤 哲哉, 小原 收, 青木 洋子, 深尾 敏幸, 呉 繁夫

    日本先天代謝異常学会雑誌　35　114-114　2019/09

    Publisher: 日本先天代謝異常学会

    ISSN： 0912-0122

  3. 中間型ガラクトース血症III型の同胞例

    戸恒恵理子, 和田陽一, 齋藤寧子, 西條直也, 堅田有宇, 堅田有宇, 市野井那津子, 菊池敦生

    日本先天代謝異常学会雑誌　40 (CD-ROM)　2024

    ISSN： 0912-0122

  4. 新規疾患の新生児マススクリーニングに求められる実施体制の構築に関する研究 各地域のスクリーニングに関する実態調査:東北(2)宮城県・山形県・福島県

    和田陽一, 呉繁夫, 大浦敏博, 菊池敦生, 市野井那津子, 齋藤寧子, 戸恒恵理子

    新規疾患の新生児マススクリーニングに求められる実施体制の構築に関する研究 令和5年度 総括・分担研究報告書(Web)　2024

  5. 新生児スクリーニング対象疾患等の先天代謝異常症における生涯にわたる診療体制の整備に関する研究 非ケトーシス型高グリシン血症とガラクトース血症に関する研究

    和田陽一, 呉繁夫, 大浦敏博, 菊池敦生, 齋藤寧子, 戸恒恵理子

    新生児スクリーニング対象疾患等の先天代謝異常症における生涯にわたる診療体制の整備に関する研究 令和4年度 総括・分担研究報告書(Web)　2023

  6. 宮城県における原発性免疫不全症および脊髄性筋萎縮症の新生児マススクリーニング検査実績報告

    栗原 愛, 佐藤 裕子, 菅野 朋恵, 宮川 詩乃, 和田 陽一, 森谷 邦彦, 植松 貢, 笹原 洋二, 今井 耕輔

    日本マス・スクリーニング学会誌　32　(2)　223-223　2022/08

    Publisher: (一社)日本マススクリーニング学会

    ISSN： 0917-3803

  7. 新生児スクリーニング対象疾患等の先天代謝異常症における生涯にわたる診療体制の整備に関する研究 非ケトーシス型高グリシン血症とガラクトース血症に関する研究

    和田陽一, 呉繁夫, 大浦敏博, 菊池敦生, 齋藤寧子

    新生児スクリーニング対象疾患等の先天代謝異常症における生涯にわたる診療体制の整備に関する研究 令和3年度 総括・分担研究報告書(Web)　2022

  8. 新生児スクリーニング対象疾患等の先天代謝異常症における生涯にわたる診療体制の整備に関する研究 非ケトーシス型高グリシン血症とガラクトース血症に関する研究

    和田陽一, 呉繁夫, 大浦敏博, 菊池敦生, 齋藤寧子

    新生児スクリーニング対象疾患等の先天代謝異常症における生涯にわたる診療体制の整備に関する研究 令和2年度 総括・分担研究報告書(Web)　2021

  9. 全国調査より知り得た尿素サイクル異常症患者の長期的予後について

    城戸淳, 城戸淳, 中村公俊, 中島葉子, 和田陽一, 望月成隆, 村山圭, 李知子, 望月弘, 渡邊順子, 堀川玲子

    日本先天代謝異常学会雑誌　37　2021

    ISSN： 0912-0122

  10. 先天代謝異常症の生涯にわたる診療支援を目指したガイドラインの作成・改訂および診療体制の整備に向けた調査研究 アミノ酸代謝異常症の発症頻度に関する研究 非ケトーシス型高グリシン血症の診療ガイドラインの作成

    呉繁夫, 菊池敦生, 和田陽一, 松橋徹郎

    先天代謝異常症の生涯にわたる診療支援を目指したガイドラインの作成・改訂および診療体制の整備に向けた調査研究 令和元年度 総括・分担研究報告書(Web)　2020

  11. GALMの両アレル性変異はガラクトース血症IV型を呈する(Blallelic GALM pathogenic variants cause a novel type of galactosemia)

    和田 陽一, 菊池 敦生, 市野井 那津子, 坂本 修, 竹澤 祐介, 岩澤 伸哉, 新堀 哲也, 入月 浩美, 中島 葉子, 小川 えりか, 石毛 美夏, 平井 洋生, 笹井 英雄, 藤木 亮次, 伊藤 哲也, 小原 収, 青木 洋子, 小柴 生造, 深尾 敏幸, 呉 繁夫

    日本小児科学会雑誌　123　(2)　280-280　2019/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  12. GALMの両アレル性変異はガラクトース血症IV型を呈する(Blallelic GALM pathogenic variants cause a novel type of galactosemia)

    和田 陽一, 菊池 敦生, 市野井 那津子, 坂本 修, 竹澤 祐介, 岩澤 伸哉, 新堀 哲也, 入月 浩美, 中島 葉子, 小川 えりか, 石毛 美夏, 平井 洋生, 笹井 英雄, 藤木 亮次, 伊藤 哲也, 小原 収, 青木 洋子, 小柴 生造, 深尾 敏幸, 呉 繁夫

    日本小児科学会雑誌　123　(2)　280-280　2019/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  13. 先天代謝異常症の生涯にわたる診療支援を目指したガイドラインの作成・改訂および診療体制の整備に向けた調査研究 新しい型のガラクトース血症IV型~診断基準と診療ガイドラインの作成に向けて~

    呉繁夫, 菊池敦生, 和田陽一

    先天代謝異常症の生涯にわたる診療支援を目指したガイドラインの作成・改訂および診療体制の整備に向けた調査研究 平成30年度 総括・分担研究報告書(Web)　2019

  14. 下肢の筋痛で発症し呼吸困難で発覚した小児のギラン・バレー症候群の1例

    太田裕也, 宮野峻輔, 阿部雄紀, 和田陽一, 有馬正貴, 鳴海僚彦, 工藤充哉, 武井健太郎, 清水洋, 植松有里佳

    日本小児科学会雑誌　120　(10)　2016

    ISSN： 0001-6543

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Presentations 29

  1. Feasible point-of-care testing method for monitoring phenylalanine levels using phenylalanine ammonia lyase and portable ammonia detection system Invited

    Yoichi Wada, Eriko Totsune, Yasuko Mikami-Saito, Atsuo Kikuchi, Toshio Miyata, Shigeo Kure

    2024/04/15

  2. ガラクトース血症 Invited

    和田 陽一

    第50回日本マススクリーニング学会　2023/08

  3. Biallelic GALM pathogenic variants cause type IV galactosemia

    Annual Symposium of the Society for the Study of Inborn Errors of Metabolism　2019/09/04

  4. 新生児マススクリーニング検査について Invited

    和田 陽一

    仙台市乳児健康診査登録研修会　2023/10/25

  5. フェニルアラニンアンモニアリアーゼと携帯型アンモニア検出システムを用いた血中フェニルアラニン濃度測定方法の開発

    和田 陽一, 戸恒 恵理子, 齋藤 寧子, 菊池 敦生, 宮田 敏男, 呉 繁夫

    第65回日本先天代謝異常学会　2023/10/05

  6. フェニルアラニンアンモニアリアーゼと携帯型アンモニア検出システムを用いた血中フェニルアラニン濃度測定方法の開発

    和田 陽一, 戸恒 恵理子, 齋藤 寧子, 菊池 敦生, 宮田 敏男, 呉 繁夫

    ヨーロッパ先天代謝異常学会　2023/08

  7. β-galactosidase therapy can mitigate blood galactose elevation in type IV galactosemia Invited

    2023/06/30

  8. 拡大新生児マススクリーニングの現状と課題 Invited

    和田 陽一

    第20回東北・北海道代謝異常症研究会　2023/06/16

  9. ムコ多糖症II型の診かたと最近の治療の考え方 Invited

    和田 陽一

    第65回日本小児神経学会　2023/05/27

  10. ファブリー病の診かた Invited

    和田 陽一

    第28回東北小児成長フォーラム　2023/01/26

  11. β-ガラクトシダーゼはガラクトース血症IV型の血中ガラクトース上昇を抑制する

    和田 陽一, 市野井 那津子, 菊池 敦生, 呉 繁夫

    第63回日本先天代謝異常学会　2022/11/24

  12. 宮城県における拡大スクリーニングの現状とこれから

    和田 陽一, 栗原 愛, 佐藤 裕子, 菅野 朋恵, 宮川 詩乃, 植松 貢, 笹原 洋二, 呉 繁夫, 大浦 敏博

    第234回日本小児科学会宮城地方会　2022/11/20

  13. LSS欠損症における組織特異的モデルマウスを用いた代謝および病理プロファイル

    和田 陽一, 菊池 敦生, 加賀 元宗, 清水 直紀, 伊藤 隼哉, 新堀 哲也, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 城田 松之, 舟山 亮, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 相場 節也, 仲川 清隆, 呉 繁夫

    日本人類遺伝学会第65回大会　2022/11

  14. ホモシスチン尿症の治療の考え方 Invited

    和田 陽一

    第18回日本先天代謝異常学会セミナー　2022/07/16

  15. Pompe disease: Pathophysiology, Symptoms, and Diagnosis Invited

    2022/01/26

  16. 先天代謝異常症における栄養療法の現在と今後の展望〜脂肪酸代謝に注目して〜 Invited

    和田 陽一

    第4回中性脂肪学会　2021/12/04

  17. LSS欠損症における組織特異的モデルマウスを用いた代謝および病理プロファイル

    和田 陽一, 菊池 敦生, 加賀 元宗, 清水 直紀, 伊藤 隼哉, 新堀 哲也, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 城田 松之, 舟山 亮, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 相場 節也, 仲川 清隆, 呉 繁夫

    第62回日本先天代謝異常学会　2021/11/04

  18. LSS欠損症における組織特異的モデルマウスを用いた代謝および病理プロファイル

    和田 陽一, 菊池 敦生, 加賀 元宗, 清水 直紀, 伊藤 隼哉, 新堀 哲也, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 城田 松之, 舟山 亮, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 相場 節也, 仲川 清隆, 呉 繁夫

    第14回国際先天代謝異常学会　2021/11

  19. 先天代謝異常症UpDate Invited

    和田 陽一

    東北大学遺伝子診療部教育セミナー　2021/08/17

  20. 血糖値をどう解釈する？ Invited

    和田 陽一

    第17回日本先天代謝異常学会セミナー　2021/07/03

  21. 新規に同定したガラクトース血症IV型における国内頻度と臨床像に関する研究 Invited

    和田 陽一, 菊池 敦生, 岩澤 伸哉, 市野井 那津子, 小柴 生造, 呉 繁夫

    第124回日本小児科学会学術集会　2021/04

  22. 新生児スクリーニングで先天代謝異常症が陽性となったら Invited

    和田 陽一

    日本マススクリーニング学会技術部会研修会　2021/03/06

  23. シトルリン血症1型の遅発例の問題 Invited

    和田 陽一

    第47回日本マススクリーニング学会　2020/09/25

  24. 身体所見からみつける③〜救急外来の現場で Invited

    和田 陽一

    第16回日本先天代謝異常学会セミナー　2020/06/20

  25. GALM の両アレル性変異は ガラクトース血症IV型を呈する

    和田 陽一, 菊池 敦生, 市野井 那津子, 坂本 修, 岩澤 伸哉, 竹澤 祐介, 新堀 哲也, 入月 浩美, 中島 葉子, 石毛 美夏, 平井 洋生, 笹井 英雄, 藤木 亮次, 伊藤 哲哉, 小原 收, 青木 洋子, 小柴 生造, 深尾 敏幸, 呉 繁夫

    第61回日本先天代謝異常学会　2019/10/24

  26. ガラクトース血症の新規病型の発見 Invited

    和田 陽一

    第8回九州新生児スクリーニング研究会　2019/06/09

  27. 髄腔内酵素補充療法を施行中の後期乳児型異染性白質ジストロフィーの一例

    和田 陽一, 酒井 規夫, 綾 邦彦, 二宮 伸介, 脇 研自, 新垣 義夫

    第56回先天代謝異常学会　2014/11

  28. マイコプラズマ肺炎と尿中β2ミクログロブリンに関する検討

    和田 陽一, 桑門 克治, 新垣 義夫

    第116回小児科学会総会　2013/04

  29. BLNAR陽性例の下気道感染症におけるABPC及びCTRXの有用性についての検討

    和田 陽一, 三木 康暢, 羽山 陽介, 田中 紀子, 西田 吉伸藤原, 充弘, 渡部 晋一, 脇 研自, 桑門 克治, 新垣 義夫

    第84回日本小児科学会岡山地方会　2011/12/04

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Industrial Property Rights 1

  1. 血中フェニルアラニン定量方法及びそれに使用する測定キット

    和田 陽一, 呉 繁夫

    Property Type: Patent