AKT · Endocrine/Lipids, metabolic & inheritedlow yield

Galactosaemia

Autosomal-recessive galactose-1-phosphate uridyltransferase deficiency

Overview

Autosomal-recessive deficiency of galactose-1-phosphate uridyltransferase (classic galactosaemia), so galactose (from lactose) cannot be metabolised and toxic galactose-1-phosphate accumulates. The neonate becomes unwell on milk feeds — jaundice, hepatomegaly, vomiting, hypoglycaemia, cataracts and a predisposition to E. coli sepsis. Treated by a lifelong lactose/galactose-free diet.

Recognise

Neonate unwell after starting MILK feeds: vomiting, poor feeding, jaundice, hepatomegaly, hypoglycaemia, failure to thrive
Bilateral CATARACTS (galactitol); predisposition to E. coli neonatal sepsis
Untreated: liver failure, learning difficulty; reducing substances in urine

Red flags

E. coli sepsis in a jaundiced neonate on milk → consider galactosaemia
Acute liver failure/hypoglycaemia in the newborn

Differentials & how to tell them apart

Other neonatal metabolic / liver diseasespecific enzyme/metabolite profiles; congenital infection

Hereditary fructose intolerancesymptoms on fructose/sucrose introduction (weaning), not milk

Neonatal sepsis (other)but E. coli sepsis is characteristically associated with galactosaemia

Investigations

Enzyme assay (GAL-1-PUT) on red cells; urine reducing substances (positive, glucose-negative); newborn screening in some regions; genetics.

Management

Immediate lactose/galactose-free diet (lifelong)

1Suspect in a neonate who becomes unwell on milk with jaundice/hepatomegaly/hypoglycaemia/cataracts (± E. coli sepsis). Stop lactose/galactose immediately (lactose-free formula) while confirming.Gate: Start the galactose-free diet on SUSPICION (don't wait for confirmation) — continued milk causes liver failure and is life-threatening; manage intercurrent E. coli sepsis aggressively
2Lifelong dietary restriction; monitor for long-term complications (learning, ovarian failure, despite treatment); genetic counselling.

Lactose/galactose-free diet (lifelong) — soya/lactose-free formula; the mainstay — started immediately on suspicion

Key points

Neonate sick on milk + jaundice + cataracts + E. coli sepsis = galactosaemia → galactose-free diet immediately. Contrast with PKU (no acute milk-triggered illness) and fructose intolerance (triggered at weaning).

Monitor & prognosis

Growth, development, ovarian function; diet adherence.

Acute illness preventable; some long-term effects persist.

Source: BIMDG; UK NSC