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. 1974 Jun;71(6):2505–2509. doi: 10.1073/pnas.71.6.2505

Glutathione Synthetase Deficiency, an Inborn Error of Metabolism Involving the γ-Glutamyl Cycle in Patients with 5-Oxoprolinuria (Pyroglutamic Aciduria)

Vaira P Wellner *, Ronald Sekura *, Alton Meister *, Agne Larsson †
PMCID: PMC388488  PMID: 4152248

Abstract

Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria (pyroglutamic aciduria) indicate that the metabolic lesion in this disease is at the glutathione synthetase (EC 6.3.2.3) step of the γ-glutamyl cycle. Excessive urinary excretion of 5-oxoproline by these patients appears to be associated with increased synthesis of γ-glutamyl-cysteine and formation of 5-oxoproline from this dipeptide. Thus, 5-oxoproline is produced in amounts that exceed the normal capacity of 5-oxoprolinase to convert it to glutamate. The data indicate that it may be possible to identify individuals who are heterozygous for this trait by determinations of erythrocyte glutathione synthetase.

Keywords: pyrrolidone carboxylate, γ-glutamyl-cysteine, enzyme deficiency

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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