ICD-11 definition : Hyperprolinaemia type I is an inborn error of proline metabolism characterised by
elevated levels of proline in the plasma and urine. The prevalence is unknown. The
disorder is generally considered to be benign but associations with renal abnormalities,
epileptic seizures, and other neurological manifestations, as well as certain forms
of schizophrenia have been reported. It is transmitted as an autosomal recessive trait
and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH
or POX, 22q11.2).;
Hyperprolinaemia type I is an inborn error of proline metabolism characterised by
elevated levels of proline in the plasma and urine. The prevalence is unknown. The
disorder is generally considered to be benign but associations with renal abnormalities,
epileptic seizures, and other neurological manifestations, as well as certain forms
of schizophrenia have been reported. It is transmitted as an autosomal recessive trait
and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH
or POX, 22q11.2).
Currated CISMeF NLP mapping