Galactose cataract in Japanese patient.
A Japanese infant was found to have abdominal distension at the age of 4 weeks. A diagnosis of galactosemia was made at 8 weeks of age. Dietary management completely reversed the hepatosplenomegaly and ceased the progression of lens opacities. Mental retardation was also noted at a later age. We believe this is the first reported case of galactose cataract in Japan confirmed enzymatically.
D002386:Cataract / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005693:Galactosemias / Q000150:complications* / Q000175:diagnosis / Q000178:diet therapy; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007564:Japan; D008297:Male; D013163:Splenomegaly / Q000209:etiology; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase