Galactosaemia

Last updated: Wednesday, 01, December, 2010
Key InformationAppropriate Tests

Galactose-1-phosphate uridyl transferase - red cell, galactose-1-phosphate - red cell.

Reducing substances - urine: galactose in urine will give a positive result, but the test is insensitive and a negative result does not exclude the possibility of galactosaemia.

Neonatal screen positive 

The result must be validated by follow up assays (red cell galactose-1-phosphate uridyl transferase and galactose-1-phosphate) to exclude false positives, to define mild, non-pathogenic variants and to distinguish galactokinase deficiency.

See also Neonatal screening

Manifestations

Neonatal sepsis

Neonatal hepatitis

Hypoglycaemia

Cataracts

Psychomotor regression

Cirrhosis

Amenorrhoea