Galactosaemia

Key Information

Appropriate 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 may have false positive and false negative results, 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