Galactosaemia
Last updated: Wednesday, 01, December, 2010
| 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 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 hepatitis | |
Hypoglycaemia | |
Cataracts | |
Psychomotor regression | |