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Gamma-glutamyl transpeptidase deficiency

MONDO:0009285

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

Also known as: glutathioninuria, glutathionuria, inborn error of glutathione hydrolase activity, inborn glutathione hydrolase activity disorder, rare inborn error of glutathione hydrolase activity, GGT deficiency, GGT1 deficiency, GTG deficiency

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Mineral metabolism disease (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Disorder of peptide and amine metabolism (0)
Trials to join now! 1
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  • NIH launches major study to unlock secrets of rare bone diseases

    Knowledge-focused Recruiting now

    This study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

    Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

    Last updated Aug 18, 2026 10:00 UTC

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