galactosaemia

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Galactosaemia is an autosomal recessive condition caused by the absence of galactose-1-phosphate uridyl transferase, which results in intracellular accumulation of galactose-1-phosphate which is highly toxic. It has an incidence of 1/60,000 in the UK.

Affected infants are normal at birth but upon commencement of milk feeds the majority suffer:

  • jaundice
  • vomiting
  • diarrhoea
  • failure to thrive

Last reviewed 01/2018

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