5-Oxoprolinase deficiency: report of the first human OPLAH mutation.

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.

• Authors: I A Almaghlouth, J Y Mohamed, M Al-Amoudi, L Al-Ahaidib, A Al-Odaib, F S Alkuraya
• Journal: Clinical genetics (Clin Genet) Vol. 82 Issue 2 Pg. 193-6 (Aug 2012) ISSN: 1399-0004 [Electronic] Denmark
• PMID: 21651516 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2011 John Wiley & Sons A/S.

Chemical References

• Pyroglutamate Hydrolase

Topics

• Amino Acid Metabolism, Inborn Errors (genetics)
• Base Sequence
• Frameshift Mutation
• Heterozygote
• Humans
• Infant
• Male
• Mutation
• Pyroglutamate Hydrolase (deficiency, genetics)