5-Oxoprolinase deficiency: report of the first human OPLAH mutation |
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Authors: | Almaghlouth I A Mohamed J Y Al-Amoudi M Al-Ahaidib L Al-Odaib A Alkuraya F S |
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Affiliation: | Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. |
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Abstract: | 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. |
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Keywords: | acidosis microcephaly oxoprolinuria pyroglutamic aciduria |
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