γ-glutamylcysteine synthetase deficiency

γ-glutamylcysteine synthetase deficiency
γ-glu·ta·myl·cys·te·ine syn·the·tase de·fi·cien·cy (gloo″tə-məl-sisґte-ēn sinґthə-tās) an autosomal recessive aminoacidopathy of glutathione synthesis caused by mutation in the GCLC gene (locus: 6p12), which encodes glutamate-cysteine ligase (γ-glutamylcysteine synthetase), characterized by hemolytic anemia, spinocerebellar degeneration, peripheral neuropathy, myopathy, and aminoaciduria.

Medical dictionary. 2011.

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