Enzyme deficiency

Classic galactosemia

What is missing: Galactose-1-phosphate uridyltransferase.

Presentation

Jaundice, hepatomegaly, cataracts and E. coli sepsis in a neonate on milk

Why the signs follow

Galactose-1-phosphate accumulates and is toxic to liver and kidney. Excess galactose is diverted to galactitol by aldose reductase, and galactitol causes the cataracts.

Written for exam preparation, not for diagnosis.

Glycolysis pathway All control points