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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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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