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gamma-glutamyl transpeptidase deficiency | RareConnect | RareConnect.io

/inherited glutathione metabolism disease

/gamma-glutamyl transpeptidase deficiency

gamma-glutamyl transpeptidase deficiency

Rare Disease

MONDO:0009285

Also Known As

glutathioninuriaglutathionuriainborn error of glutathione hydrolase activityinborn glutathione hydrolase activity disorderrare inborn error of glutathione hydrolase activityGGT deficiencyGGT1 deficiencyGTG deficiencygamma-glutamyltransferase deficiencygamma-glutamyltranspeptidase deficiency

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:231950 ↗

Orphanet

Orphanet:33573 ↗

GARD

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