Autoszomális recesszív
Includes classic galactosemia (GALT) and galactokinase (GALK1), epimerase (GALE) and mutarotase (GALM) deficiencies, which can cause life-threatening illness in newborns, liver problems or cataracts; the common Duarte variant on its own usually causes no disease.
Mit változtat a diagnózis
Knowing allows prompt removal of galactose from the diet, which prevents the acute newborn illness and, in galactokinase deficiency, cataracts.
6 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- classic galactosemia
- erythrocyte galactose epimerase deficiency
- galactokinase deficiency
- galactose epimerase deficiency
- galactosemia 4
- generalized galactose epimerase deficiency
