classic galactosemia
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
MONDO:0018116
galactosemia
is_a
MONDO:0019852
inherited primary ovarian failure
is_a
MONDO:0800152
disorder of galactose and fructose metabolism
is_a
GALT deficiency
exact
classic galactosemia
exact
classical galactosemia, homozygous duarte-type
narrow
galactose-1-phosphate uridyltransferase deficiency
exact
galactosemia type 1
exact
transferase deficiency
related
SPBPB2B2.10c