Hyperprolinaemia type 1 (Q57670): Difference between revisions
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A hiperprolinaemia tipo 1 é um erro inato do metabolismo da prolina, caracterizado por níveis elevados de prolina no plasma e na urina. A prevalência é desconhecida. O distúrbio é geralmente considerado benigno, mas foram relatadas associações com anormalidades renais, convulsões epilépticas e outras manifestações neurológicas, bem como certas formas de esquizofrenia. É transmitida como um traço autossômico recessivo e é causada por mutações no gene da prolina desidrogenase ou prolina oxidase (PRODH ou POX, 22q11.2). | |||
| description / en | description / en | ||
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). | |||
Revision as of 05:18, 14 August 2026
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).
| Language | Label | Description | Also known as |
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| default for all languages | ID_2006510589 |
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| English | Hyperprolinaemia type 1 |
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). |
