Pyruvate metabolism disorder
MONDO:0016789An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
Also known as: inborn error of pyruvate metabolic process, inborn pyruvate metabolic process disorder, rare inborn error of pyruvate metabolic process
31 clinical trials for this condition and its sub-types, 0 tagged with Pyruvate metabolism disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
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Sub-types of Pyruvate metabolism disorder
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Disorder of glycolysis 1 trial · 27 incl. sub-types
16 sub-types
- Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
- Pyruvate kinase deficiency of red cells 10 trials
- Permanent neonatal diabetes mellitus 2 trials Sub-types →
- Glycogen storage disease VII 1 trial
- Glycogen storage disease due to aldolase A deficiency 1 trial
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
- Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
- Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
- Charcot-Marie-Tooth disease type 4G 0 trials
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 trials
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
- Hemolytic anemia due to glucophosphate isomerase deficiency 0 trials
- Hyperinsulinemic hypoglycemia, familial, 3 0 trials
- Lactic aciduria due to D-lactic acid 0 trials
- Non-spherocytic hemolytic anemia due to hexokinase deficiency 0 trials
- Triosephosphate isomerase deficiency 0 trials
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Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types
7 sub-types
- Pyruvate dehydrogenase E1-alpha deficiency 2 trials
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Lipoic acid synthetase deficiency 0 trials
- Pyruvate dehydrogenase E1-beta deficiency 0 trials
- Pyruvate dehydrogenase E2 deficiency 0 trials
- Pyruvate dehydrogenase E3-binding protein deficiency 0 trials
- Pyruvate dehydrogenase phosphatase deficiency 0 trials
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Pyruvate kinase hyperactivity 0 trials
Most studied deeper sub-types
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Could vitamin c tame anemia? early trial tests high doses in rare blood disorders
Disease control Not yet recruitingThis early-stage study tests whether high-dose Vitamin C is safe for people with two rare inherited blood disorders—Pyruvate Kinase Deficiency (PKD) and a form of G6PD deficiency. Both conditions cause red blood cells to break down too quickly, leading to anemia. The study will e…
Phase 1 • Sponsor: University of Utah • Aim: Disease control
Last updated Jun 27, 2026 12:39 UTC
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Could a simple test catch diabetes earlier in young asians?
Knowledge-focused Not yet recruitingThis study will look at 3000 young Asians in Singapore who do not have diabetes yet. Researchers will use blood tests, glucose monitors, food diaries, and body measurements to find better ways to detect diabetes early. The goal is to create new risk tools to identify young people…
Sponsor: Singapore General Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC