" /> Glutathionuria - CISMeF





Preferred Label : Glutathionuria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gamma-glutamyltranspeptidase deficiency; Ggt deficiency; Gamma-glutamyltransferase deficiency; Gtg deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gamma-glutamyltransferase 1 gene (GGT1, 612346.0001);

Laboratory abnormalities : Glutathionemia; Gamma-glutamyltranspeptidase deficiency; Glutathionuria;

Prefixed ID : #231950;

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27/07/2025


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