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5‐Oxoprolinase deficiency: report of the first human OPLAH mutation
Author(s) -
Almaghlouth IA,
Mohamed JY,
AlAmoudi M,
AlAhaidib L,
AlOdaib A,
Alkuraya FS
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01728.x
Subject(s) - mutation , phenotype , genotype , genetics , genotype phenotype distinction , medicine , biology , gene
Almaghlouth IA, Mohamed JY, Al‐Amoudi M, Al‐Ahaidib L, Al‐Odaib A, Alkuraya FS. 5‐Oxoprolinase deficiency: report of the first human OPLAH mutation. Gamma‐glutamyl cycle is a six‐enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. 5‐Oxoprolinase deficiency is an extremely rare disorder of the gamma‐glutamyl cycle with only eight patients reported to date. Debate continues as to whether this is a benign biochemical defect because of the heterogeneity of the clinical presentation which ranges from normal to significant neurological involvement. Here, we report the first molecularly characterized patients with 5‐oxoprolinase deficiency due to a mutation in OPLAH (which encodes 5‐oxoprolinase). The largely benign clinical course of the patients described herein despite persistent 5‐oxoprolinuria highlights the importance of establishing a molecular diagnosis in the few cases with abnormal neurological outcome to exclude potentially overlapping biochemical defects and to explore potential genotype/phenotype correlation.