Hyperprolinemia type 2
ORPHA:79101· ICD-10 E72.5
Definition
Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages