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Hyperprolinemia type 1

Orpha number ORPHA419
Synonym(s) Proline oxidase deficiency
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Variable
ICD-10
  • E72.5
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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).


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