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Galactosemia subtypes and clinical presentations [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 |
