Conditions / Genetic
galactokinase deficiency
info · Genetic · ICD-10: E74.29
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Signs and symptoms
- Reduced erythrocyte galactokinase activity
- Galactosuria
- Hypergalactosemia
- Cataract
- Prolonged neonatal jaundice
- Increased intracranial pressure
Medications that may treat it
Also known as: Galactosemia II