Symptoms of congenital Type III Galactosemia are apparent from birth, but vary in severity depending on whether the peripheral or generalized disease form is present. Symptoms may include: * Infantile jaundice * Infantile hypotonia * Dysmorphic features * Sensorineural hearing loss * Impaired growth * Cognitive deficiencies * Depletion of cerebellar Purkinje cells * Ovarian failure (POI) and hypertrophic hypergonadism * Liver failure * Renal failure * Splenomegaly * Cataracts Studies of Type III galactosemia symptoms are mostly descriptive, and precise pathogenic mechanisms remain unknown. This is largely due to a lack of functional animal models of classic galactosemia. The recent development of a Drosophila melanogaster GALE mutant exhibiting galactosemic symptoms may yield a promising future animal model.
Galactose epimerase deficiency
Malonyl-CoA decarboxylase deficiency
Galactose-1-phosphate uridylyltransferase deficiency
Ornithine aminotransferase deficiency
Enolase deficiency
Glutaminase deficiency
Pyruvate kinase deficiency
Holocarboxylase synthetase deficiency