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Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.

Brain & development - 1 Nov 2015

Li Xiyuan, Ding Yuan, Liu Yupeng, Ma Yanyan, Song Jinqing, Wang Qiao, Yang Yanling

Abstract excerpt

OBJECTIVE: 5-Oxoprolinuria is a rare inherited metabolic disorder caused by a defective gamma-glutamyl cycle resulting from mutations in the genes encoding 5-oxoprolinase (OPLAH) and glutathione synthetase (GSS). No inherited 5-oxoprolinuria case has been reported in mainland China until now. In this study, clinical, biochemical, and genetic aspects of five Chinese 5-oxoprolinuria patients with OPLAH or GSS gene...

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Source

Identifiers

PMID: 25851806
DOI: 10.1016/j.braindev.2015.03.005

Genes

GSS
OPLAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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