Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased CSF levels of leukotriene C4 in a patient with glutathione synthetase deficiency

Journal of Inherited Metabolic Disease
2004.0

Abstract

<jats:title>Abstract</jats:title><jats:p><jats:bold>Summary:</jats:bold> A 32‐year‐old man with glutathione synthetase deficiency developing an acute metabolic crisis is described. During this acute episode, intracellular glutathione content in erythrocytes was below the detection limit (&lt;0.3 mmol/L). Leukotriene C<jats:sub>4</jats:sub> in CSF and urinary leukotriene E<jats:sub>4</jats:sub> were massively decreased, indicating an impaired synthesis of cysteinyl leukotrienes. Clinical recovery after one week was accompanied by a clear improvement of these biochemical parameters. The highly disturbed glutathione synthesis is postulated to be the reason for a deficient synthesis of cysteinyl leukotrienes, which may at least in part be responsible for the severe clinical symptoms.

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