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, 0 tagged with Gamma-glutamyl transpeptidase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Inherited glutathione metabolism disease (1)

Including sub-types (1) Tagged with Gamma-glutamyl transpeptidase deficiency (0)

Trials to join now! 1

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 Sep 18, 2026 00:00 UTC

Gamma-glutamyl transpeptidase deficiency

Where it sits in the disease tree

NIH launches major study to unlock secrets of rare bone diseases