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Proline dehydrogenase deficiency

Synonyms
Hyperprolinemia type 1; Hyperprolinemia, Type I; PROLINE OXIDASE DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003). Genetic Heterogeneity of Hyperprolinemia See also hyperprolinemia type II (HYRPRO2; 239510), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; 606811) on chromosome 1p36. [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSPOX2, PIG6, POX, PRODH1, TP53I6, PRODH
    Summary: proline dehydrogenase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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