Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
MONDO:0010392Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
Also known as: GSD due to phosphoglycerate kinase 1 deficiency, PGK1 glycogen storage disease, Phosphoglycerate Kinase Deficiency, glycogen storage disease caused by mutation in PGK1, glycogen storage disease due to phosphoglycerate kinase 1 deficiency, glycogenosis due to phosphoglycerate kinase 1 deficiency, phosphoglycerate kinase 1 deficiency, X-linked recessive, PGK deficiency
2 clinical trials for this condition and its sub-types, 0 tagged with Glycogen storage disease due to phosphoglycerate kinase 1 deficiency itself.
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Scientists launch major study to unravel mysterious metabolism disorders
Knowledge-focused Recruiting nowThis study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 21, 2026 00:00 UTC
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Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?
Knowledge-focused Recruiting nowThis study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…
Sponsor: Institute of Liver and Biliary Sciences, India • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC