Table 1.
Galactosemia subtypes | Enzyme defect | Clinical presentation |
---|---|---|
Classic/type I galactosemia | Galactose-1-phosphate-uridyl-transferase | Vomiting, hepatomegaly, cataracts, failure to thrive, aminoaciduria |
Galactokinase deficiency | Galactokinase | Cataract |
UDP-galactose-4-epimerase deficiency | UDP-galactose-4-epimerase | Similar to transferase deficiency with additional findings of hypotonia and nerve deafness |