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