Glutathionuria

Description

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

Clinical Features

Phenotypes and symptoms related to Glutathionuria

  • Intellectual disability
  • Abnormality of metabolism/homeostasis

Incidence and onset information

Not enough data available about incidence and published cases.


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Glutathionuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GGT1.

By Fulgent Genetics Fulgent Genetics in United States.

GGT1
Specificity
100 %
Genes
100 %

Alternate names

Glutathionuria Is also known as gamma-glutamyltranspeptidase deficiency, ggt deficiency, gtg deficiency, gamma-glutamyltransferase deficiency;glutathionuria.



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