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Article

Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.

Annals of clinical and laboratory science - 1 Jan 2013

Jang Mi-Ae, Kim Byung Cheol, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Choi Tae Youn, Lee Dong Hwan, Song Junghan, Lee Yong-Wha, Park Hyung-Doo

Abstract excerpt

BACKGROUND: Hyperprolinemia is a rare inherited metabolic disorder characterized by a high proline level in blood and/or urine and various neuropsychiatric symptoms. Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11. Herein, we present a study of Korean patients with type I hyperprolinemia who were diagnosed during newborn screening by tandem...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23462603

Genes

PRODH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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