Genetics in medicine : official journal of the American College of Medical Genetics · 2024
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
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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
Аннотация
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: 1:181,835). 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.
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: 1:181,835). 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.