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Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito, Yasuko; Wada, Yoichi; Arai-Ichinoi, Natsuko; Nakajima, Yoko; Suzuki-Ajihara, Sayaka; Murayama, Kei; Tanaka, Toju; Numakura, Chikahiko; Hamazaki, Takashi; Igarashi, Noboru; Esaki, Hiroyuki; Kagawa, Reiko; Kono, Tomotaka; Sawada, Takaaki; Sawada, Tomo; Nyuzuki, Hiromi; Hirai, Hiroki; Fumoto, Seiko; Matsuda, Junko; Matsunaga, Ayako; Maruyama, Shinsuke; Yamaguchi, Kenichiro; Yoshino, Miwa; Totsune, Eriko; Kikuchi, Atsuo; Ohura, Toshihiro; Kure, Shigeo.
Afiliación
  • Mikami-Saito Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Wada Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address: wada@med.tohoku.ac.jp.
  • Arai-Ichinoi N; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
  • Nakajima Y; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
  • Suzuki-Ajihara S; Department of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Tanaka T; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
  • Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
  • Hamazaki T; Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Igarashi N; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
  • Esaki H; Department of Pediatrics, Sasebo City General Hospital, Sasebo, Japan.
  • Kagawa R; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Kono T; Division of Endocrinology and Metabolism, Saitama Children's Medical Center, Saitama, Japan.
  • Sawada T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
  • Sawada T; Department of Pediatrics, Izumi City General Hospital, Osaka, Japan.
  • Nyuzuki H; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Hirai H; Department of Pediatrics, Shikoku Central Hospital of the Mutual Aid Association of Public School Teachers, Shikokuchuo, Japan.
  • Fumoto S; Department of Pediatrics, Kyorin University School of Medicine, Mitaka, Japan.
  • Matsuda J; Department of Pathophysiology and Metabolism, Kawasaki Medical School, Kurashiki, Japan.
  • Matsunaga A; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Maruyama S; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Yamaguchi K; Department of Pediatrics, National Hospital Organization Kokura Medical Center, Kitakyushu, Japan.
  • Yoshino M; Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization, Kitakyushu, Japan.
  • Totsune E; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Ohura T; Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.
  • Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Genet Med ; 26(8): 101165, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38762772
ABSTRACT

PURPOSE:

Galactose mutarotase (GALM) deficiency was first reported in 2019 as the fourth type of galactosemia. This study aimed to investigate the clinical and genotypic spectra of GALM deficiency.

METHODS:

This was a questionnaire-based retrospective survey conducted in Japan between February 2022 and March 2023.

RESULTS:

We identified 40 patients with GALM deficiency in Japan (estimated prevalence 1181,835). Four of 38 patients (10.5%) developed cataracts, which resolved with lactose restriction in 3 out of 4 patients. Transient transaminitis was the most common symptom (23.1%). All of the patients followed lactose restriction; discontinuation of the restriction after infancy did not cause any complications. Moreover, none of the participants experienced long-term complications. Two variants, GALM NM_138801.3 c.294del and c.424G>A, accounted for 72.5% of the identified pathogenic variants. The patients showed moderately elevated blood galactose levels with lactose intake; however, the elevation was lower than that observed in galactokinase deficiency.

CONCLUSION:

GALM deficiency is characterized by a similar but milder phenotype and lower blood galactose elevation than in galactokinase deficiency. Diagnosis and initiation of lactose restriction in early infancy should be essential for prevention of cataracts, especially in cases of irreversible opacity.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Galactosa / Galactosemias Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Galactosa / Galactosemias Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos