Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Yasuko Mikami-SaitoYoichi WadaNatsuko Arai-IchinoiYoko NakajimaSayaka Suzuki-AjiharaKei MurayamaToju TanakaChikahiko NumakuraTakashi HamazakiNoboru IgarashiHiroyuki EsakiReiko KagawaTomotaka KonoTakaaki SawadaTomo SawadaHiromi NyuzukiHiroki HiraiSeiko FumotoJunko MatsudaAyako MatsunagaShinsuke MaruyamaKenichiro YamaguchiMiwa YoshinoEriko TotsuneAtsuo KikuchiToshihiro OhuraShigeo KurePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2024)
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.