What is Galactosaemia?

Other names that may be used for this condition are:

  • Classic Galactosaemia
  • GALT Deficiency
  • Galactose-1-Phosphate Uridyl Transferase Deficiency

Galactose is a sugar which is a constituent of lactose (the form of sugar found in milk, including breast milk, and in the majority of infant milk formulas). The term Galactosaemia (increased galactose in the blood) usually refers to “classic” galactosaemia and its synonyms above.

(Galactose may also be increased in blood in two other conditions-Galactokinase deficiency and UDP-Galactose-4-epimerase deficiency. Galactokinase deficiency is a rare cause of cataract in children who are otherwise completely normal. Galactose-4-epimerase deficiency may be harmless, if it affects only blood cells, but a generalised form causes vomiting and jaundice in the newborn, deafness, severe developmental delay and cataract in a minority of cases).

 

Treatment

Children with Galactosaemia should follow a strict diet which is free of galactose and lactose; this is accomplished by the removal of all milk products and all known sources of galactose from the diet. Medicines containing lactose should be avoided.

Girls with galactosaemia may require oestrogen replacement therapy to induce and maintain sexual development around the normal time of puberty. There is a high risk of infertility because of underdevelopment of the ovaries.

Voluntary Sector Organisations