Inherited glutathione synthetase deficiency
MONDO:0017909Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
Also known as: 5-oxoprolinuria, GSSD, glutathione synthetase deficiency, inborn error of glutathione synthase activity, inborn glutathione synthase activity disorder, inherited glutathione synthetase deficiency, pyroglutamic aciduria, pyroglutamicaciduria
3 clinical trials for this condition and its sub-types, 1 tagged with Inherited glutathione synthetase deficiency itself.
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Browse by category →Sub-types of Inherited glutathione synthetase deficiency
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NIH launches major study to unlock secrets of rare bone diseases
Knowledge-focused Recruiting nowThis 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
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Scientists seek genetic clues to mysterious immune defects
Knowledge-focused Recruiting nowThis study looks at people with unusual or repeated infections and their family members to find the genetic and biochemical causes of immune system problems. Researchers will collect blood, saliva, urine, and other samples over time to better understand these conditions. The goal…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Aug 20, 2026 00:00 UTC