SN3
SHORT NOTE
5M
Define Galactosaemia. Describe its clinical features, diagnosis, pathophysiology and prognosis.
Definition
Galactosaemia is an autosomal recessive disorder, classically due to deficiency of galactose-1-phosphate uridyltransferase (GALT), causing accumulation of galactose and its metabolites after milk (lactose) ingestion.
Clinical Features
- Onset after starting milk feeds — vomiting, poor feeding, failure to thrive, and jaundice with hepatomegaly.
- Hypoglycaemia, cataracts, and a characteristic predisposition to E. Coli sepsis.
- If untreated → liver failure and intellectual disability.
Diagnosis & Management
- Reducing substances in urine (non-glucose), low GALT enzyme activity; newborn screening where available.
- Immediate, lifelong galactose/lactose-free diet — a soy-based (lactose-free) formula — which reverses the acute features.
- Monitor for cataracts and developmental progress.
Pathophysiology & Complications
- Accumulated galactose-1-phosphate is toxic to the liver, kidney and brain, and galactitol deposition in the lens causes cataracts.
- Early liver failure, bleeding and E.
- Coli sepsis can be fatal in the neonatal period.
Emergency in the Neonate
- A sick neonate with galactosaemia is prone to Gram-negative (E.
- Coli) sepsis and liver failure; if suspected, stop lactose (switch to a soy/lactose-free formula) immediately while confirming the diagnosis, and treat sepsis.
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