Conditions / Genetic
hyperprolinemia type 1
info · Genetic
A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.
Signs and symptoms
- Delayed speech and language development
- Hyperprolinemia
- Intellectual disability
- Seizure
- Hyperglycinuria
- Global developmental delay
- Prolinuria
- Status epilepticus
- EEG abnormality
- Hypotonia
Also known as: hyperprolinemia type I