title: 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.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: I A
authors.initials: IA
authors.lastname: Almaghlouth
authors.forename: J Y
authors.initials: JY
authors.lastname: Mohamed
authors.forename: M
authors.initials: M
authors.lastname: Al-Amoudi
authors.forename: L
authors.initials: L
authors.lastname: Al-Ahaidib
authors.forename: A
authors.initials: A
authors.lastname: Al-Odaib
authors.forename: F S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001483:Base Sequence; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011752:Pyroglutamate Hydrolase / Q000172:deficiency / Q000235:genetics*
chemical_list: D011752:Pyroglutamate Hydrolase