In undiagnosed and untreated children, the accumulation of precursor metabolites due to the deficient activity of galactose<unk> -phosphate<unk>  (GALT) can lead to feeding problems, failure to thrive, liver damage, bleeding, and infections. The first presenting symptom in an infant is often prolonged jaundice. Without intervention in the form of galactose restriction, infants can develop hyperammonemia and sepsis, possibly leading to shock. The accumulation of galactitol and subsequent osmotic swelling can lead to cataracts which are similar to those seen in galactokinase<unk> . Long-term consequences of continued galactose intake can include developmental delay, developmental verbal dyspraxia, and motor abnormalities. Galactosemic females frequently suffer from ovarian failure, regardless of treatment in the form of galactose restriction.
Galactose-1-phosphate uridylyltransferase deficiency
Arginine:glycine amidinotransferase deficiency
Ribose-5-phosphate isomerase deficiency
Malonyl-CoA decarboxylase deficiency
Ornithine aminotransferase deficiency
Galactose epimerase deficiency
Guanidinoacetate methyltransferase deficiency
Adenine phosphoribosyltransferase deficiency