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Hyperprolinemia type 1

MONDO:0009400

Hyperprolinaemia type I is an inborn error of proline metabolism characterized 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).

Also known as: PRODH hyperprolinemia, hyperprolinemia caused by mutation in PRODH, hyperprolinemia type 1, proline oxidase deficiency, HPI, HYRPRO1, hyperprolinemia, type 1, hyperprolinemia, type I

24 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5
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