Curriculum · Metabolic and Endocrine and Diabetes Mellitus
Galactosaemia
What it is
Galactosemia is a carbohydrate metabolism disorder. The enzyme at fault, most commonly, is galactose-1-phosphate uridyl transferase, written GALT. It is also one of the inherited causes of Fanconi syndrome, the generalized dysfunction of the proximal renal tubules.
How it presents
The picture appears when the baby is fed milk: poor feeding, vomiting, jaundice and hepatomegaly. The full list of features is jaundice, hypoglycemia, cataract, seizure, hepatomegaly and splenomegaly, and E. coli or any gram negative sepsis. The jaundice is a conjugated hyperbilirubinemia, with direct bilirubin elevation, and there is failure to thrive after feeding. A worked example: a 4 days old boy of consanguineous parents, started on breast feeding with no concern, who then had recurrent vomiting, began avoiding feeding and became less responsive; at the emergency department he was lethargic, moderately dehydrated, jaundiced with a clouded eye and hepatomegaly, and his investigations showed hypoglycemia with deranged LFT and pre-renal azotemia. A newborn with jaundice, hepatomegaly, vomiting and sepsis, especially with E. coli, should always raise galactosemia.