Biochemical and clinical features of hereditary hyperprolinemia

  title={Biochemical and clinical features of hereditary hyperprolinemia},
  author={Hiroshi Mitsubuchi and Kimitoshi Nakamura and Shirou Matsumoto and Fumio Endo},
  booktitle={Pediatrics international : official journal of the Japan Pediatric Society},
There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI, but a… CONTINUE READING