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

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 excr...

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Hauptverfasser: Wellner, Vaira P., Sekura, Ronald, Meister, Alton, Larsson, Agne
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1974
Schlagworte:
Biological Sciences: Biochemistry
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC388488/
https://ncbi.nlm.nih.gov/pubmed/4152248
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