galactosaemia
Last reviewed 01/2018
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