hyperprolinemia type II

Pathology

• accumulation of delta-1-pyrroline-5-carboxylate (P5C) & proline

Genetics

• defect involves delta-1-pyrroline-5-carboxylate dehydrogenase

Clinical manifestations

• seizures
• mental retardation

More general terms

• hyperprolinemia

Database

• OMIM: https://mirror.omim.org/entry/239510
• OMIM: https://mirror.omim.org/entry/606811