Clinical features
The affected infant presents following the introduction of milk into the diet with:
- jaundice
- diarrhoea
- failure to thrive
- vomiting
- psychomotor retardation
- hepatosplenomegaly
- renal disease
- cataracts
- increased susceptibility to infection
- hypoglycaemia after exposure to galactose in the diet
There is:
- galactosaemia
- galactosuria
- aminoaciduria (Fanconi syndrome)
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