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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
General
hyperprolinemia
Database Correlations
OMIM correlations
References
OMIM :accession 239510