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Research Article Free access | 10.1172/JCI109060

Biochemical heterogeneity in glutathione synthetase deficiency.

S P Spielberg, M D Garrick, L M Corash, J D Butler, F Tietze, L Rogers, and J D Schulman

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Published June 1, 1978 - More info

Published in Volume 61, Issue 6 on June 1, 1978
J Clin Invest. 1978;61(6):1417–1420. https://doi.org/10.1172/JCI109060.
© 1978 The American Society for Clinical Investigation
Published June 1, 1978 - Version history
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Abstract

Two different clinical syndromes are associated with glutathione synthetase deficiency, one presenting with hemolytic anemia and 5-oxoprolinuria, the other with isolated hemolysis. We have differentiated these disorders on an enzymatic basis. In 5-oxoprolinuria, all cell types examined have grossly deficient enzyme activity and glutathione content. In contrast, in the nonoxoprolinuric variant, erythrocytes have decreased enzyme activity and glutathione content, whereas nucleated cells maintain substantial levels of both. The enzyme in this disorder is unstable in vitro and has shortened survival in intact erythrocytes. Nucleated cells appear able to maintain sufficient enzyme activity and concentrations of glutathione to suppress overproduction of 5-oxoproline.

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