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

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...

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Published in:Clinical genetics 2012-08, Vol.82 (2), p.193-196
Main Authors: Almaghlouth, IA, Mohamed, JY, Al-Amoudi, M, Al-Ahaidib, L, Al-Odaib, A, Alkuraya, FS
Format: Article
Language:English
Subjects:
acidosis
Amino Acid Metabolism, Inborn Errors - genetics
Base Sequence
Benign
Biological and medical sciences
Enzymes
Frameshift Mutation
Fundamental and applied biological sciences. Psychology
Genes
Genetic disorders
Genetics of eukaryotes. Biological and molecular evolution
Genotypes
Glutathione
Heterozygote
Humans
Infant
Male
Malformations of the nervous system
Medical genetics
Medical sciences
microcephaly
Molecular and cellular biology
Mutation
Neurology
oxoprolinuria
Pyroglutamate Hydrolase - deficiency
Pyroglutamate Hydrolase - genetics
pyroglutamic aciduria
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2011.01728.x