REIKO KAGAWA

Last Updated :2025/08/07

Affiliations, Positions
Hiroshima University Hospital, Assistant Professor
E-mail
rekagawahiroshima-u.ac.jp

Basic Information

Academic Degrees

  • Hiroshima University

Affiliated Academic Societies

  • Japan Pediatric Society
  • The Japan Endocrine Society
  • The Japanese Society for Pediatric Endocrinology
  • Japanese Society for Neonatal Screening
  • Japanese Society for Inherited Metabolic Diseases
  • The Japan Diabetes Society

Educational Activity

Course in Charge

  1. 2025, Undergraduate Education, Year, Systemic Disease Control
  2. 2025, Undergraduate Education, Intensive, Practice of Medicine I
  3. 2025, Undergraduate Education, 2Term, Pediatrics
  4. 2025, Undergraduate Education, 2Term, Pediatrics

Research Activities

Academic Papers

  1. Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency, JOURNAL OF CLINICAL IMMUNOLOGY, 44(7), 202410
    Link to Paper Search Results by DOI
  2. Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan, GENETICS IN MEDICINE, 26(8), 202408
    Link to Paper Search Results by DOI
  3. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan, INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 10(1), 202403
    Link to Paper Search Results by DOI
  4. Newborn Screening with (C16, INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 9(4), 202312
    Link to Paper Search Results by DOI
  5. Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Influential Factors on Adherence, PATIENT PREFERENCE AND ADHERENCE, 17, 1885-1894, 2023
    Link to Paper Search Results by DOI
  6. Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study, JOURNAL OF INHERITED METABOLIC DISEASE, 46(4), 618-633, 202307
    Link to Paper Search Results by DOI
  7. 023 Apr 28. doi: 10.1002/jimd.12610. Online ahead of print. PMID: 37114839, 2023
    Link to Paper Search Results by DOI
  8. Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 212(2), 96-106, 20230425
    Link to Paper Search Results by DOI
  9. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants., The Journal of allergy and clinical immunology, 140(1), 2017
  10. Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings, Clin Immunol, 41(5), 975-986, 2021
    Link to Paper Search Results by DOI
  11. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity., Molecular genetics and metabolism, 122(3), 2017
  12. Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant., International journal of neonatal screening, 7(3), 2021
  13. Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation., International journal of neonatal screening, 7(3), 2021
  14. Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test., Pediatric research, 2022
  15. Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan., Molecular genetics and metabolism, 118(1), 2016
  16. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation., Molecular genetics and metabolism, 119(4), 2016
  17. Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report., Frontiers in genetics, 8, 2017
  18. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations., International immunology, 32(10), 2020
  19. A classic variant of Fabry disease in a family with the M296I late-onset variant., CEN case reports, 10(1), 2021
  20. Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ., The Journal of allergy and clinical immunology, 149(1), 2022
  21. Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene., Endocrine journal, 60(1), 2013
  22. Early eradication of factor VIII inhibitor in patients with congenital hemophilia A by immune tolerance induction with a high dose of immunoglobulin., International journal of hematology, 103(4), 2016
  23. Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis., Haematologica, 98(10), 2013
  24. Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ., Brain pathology (Zurich, Switzerland), 27(3), 2017
  25. A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation., Pediatric transplantation, 21(5), 2017
  26. A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months., International journal of molecular sciences, 21(3), 2020

Invited Lecture, Oral Presentation, Poster Presentation

  1. Newborn screening for galactosemia in Hiroshima area of Japan, International Congress of Inborn Errors of Metabolism 2025, 2025/09/03, Without Invitation, English
  2. Status of patients with paediatric-onset craniopharyngioma who underwent endocrine therapy at our department, The 98th Annual Meeting of the Japanese Society of Endocrinology, 2025/06/05, Without Invitation, Japanese
  3. A case of N5,N10-methylenetetrahydrofolate reductase (MTHFR) deficiency found by a pilot newborn screening for hypomethioninemia., Japanese Journal for Inherited Metabolic Diseases, 2024/11/07, Without Invitation, Japanese
  4. Pilot study on newborn screening for methylmalonic acidemia and homocystinuria-related disorders caused by cobalamin metabolism disorders, The 51st Annual Meeting of the Japanese Society for Mass Screening, 2024/08/24, With Invitation, Japanese
  5. Two cases of hyperosmolar hyperglycaemic syndrome associated with chronic diseases that started in childhood, THE 34TH JES CLINICAL UPDATE ON ENDOCRINOLOGY&METABOLISM, 2024/11/24, Without Invitation, Japanese
  6. Sibling cases of Allgrove syndrome, The 97th Annual Meeting of the Japan Endocrine Society, 2024/06/06, Without Invitation, Japanese
  7. A paediatric case of sitosterolaemia diagnosed based on skin xanthoma, The 33rd Clinical Endocrinology and Metabolism Update, 2023/11/03, Without Invitation, Japanese, Kanagawa
  8. Attenuated effects of eliglustat on Gaucher disease type 1 with Extensive Metabolizer polymorphism of CYP2D6, The 64th Annual Meeting of The Japanese Teratology Society., 2023/10/04, Without Invitation, Japanese, Osaka
  9. Augmentation of osteoclast formation and its function in patients with MSMD due to impaired to IFN-ɤ, Miyuki Tsumura, Mizuka Miki, Yoko Mizoguchi, Reiko Kagawa, Seiichi Hayakawa, Satoshi Okada, ESID meeting 2021, 2021/09/27, Without Invitation, Japanese, European Society for Immunodeficiencies, Web

External Funds

Acceptance Results of Competitive Funds

  1. Grant-in-Aid for Scientific Research(C), Study on the diagnosis and severity of CPT2 deficiency in newborn screening, 2025, 2027
  2. KAKENHI(Grant-in-Aid for Early-Career Scientists), 2021, 2022
  3. 2019, 2021