Glutathione Synthetase Deficiency, an Inborn Error of Metabolism Involving the -Glutamyl Cycle in Patients with 5-Oxoprolinuria (Pyroglutamic Aciduria)
نویسندگان
چکیده
منابع مشابه
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-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 gamma-glutamyl cycle. Excessive urinary excretion of 5-oxoproline by these patients appears to be associated with increased synthesis of ...
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5-Oxoprolinuria is a recognized condition with increased urinary excretion of 5-oxoproline and is associated with a variety of inborn metabolic defects involving the series of enzyme-linked reactions known as the gamma-glutamyl cycle. We report the unusual case of a 35-year-old woman who initially presented with staphylococcal pneumonia but went on to develop a transient high anion gap metaboli...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1974
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.71.6.2505