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Article

Early neurological phenotype in 4 children with biallelic PRODH mutations.

Brain & development - 1 Oct 2007

Afenjar Alexandra, Moutard Marie-Laure, Doummar Diane, Guët Agnés, Rabier Daniel, Vermersch Anne-Isabelle, Mignot Cyril, Burglen Lydie, Heron Delphine, Thioulouse Elizabeth, de Villemeur Thierry Billette, Campion Dominique, Rodriguez Diana

Abstract excerpt

Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neurological and extraneurological defects. The PRODH gene is located in the region deleted in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 22

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Share to Mutation, Missense

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Source

Identifiers

PMID: 17412540
DOI: 10.1016/j.braindev.2007.01.008

Genes

PRODH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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