Inborn disorder of energy metabolism
MONDO:0019243An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.
Also known as: inborn error of generation of precursor metabolites and energy, inborn generation of precursor metabolites and energy disorder, rare inborn error of generation of precursor metabolites and energy, disorder of energy metabolism
235 clinical trials for this condition and its sub-types, 2 tagged with Inborn disorder of energy metabolism itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Inborn disorder of energy metabolism
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Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types
14 sub-types
- Mitochondrial oxidative phosphorylation disorder 3 trials · 58 incl. sub-types Sub-types →
- Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types Sub-types →
- Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
- Histiocytoid cardiomyopathy 3 trials Sub-types →
- Fumaric aciduria 2 trials
- OPA1-related optic atrophy with or without extraocular features 1 trial Sub-types →
- Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types Sub-types →
- Multiple acyl-CoA dehydrogenase deficiency 1 trial Sub-types →
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
- HSD10 mitochondrial disease 0 trials Sub-types →
- Hypotonia-cystinuria syndrome 0 trials Sub-types →
- Mitochondrial membrane transport disorder 0 trials Sub-types →
- Mitochondrial pyruvate carrier deficiency 0 trials
- Oxoglutaricaciduria 0 trials
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Disorder of glycogen metabolism 15 trials · 69 incl. sub-types
24 sub-types
- Glycogen storage disease II 31 trials · 41 incl. sub-types Sub-types →
- Glycogen storage disease I 10 trials · 13 incl. sub-types Sub-types →
- Danon disease 5 trials
- Glycogen storage disease IX 2 trials · 3 incl. sub-types Sub-types →
- Glycogen storage disease III 2 trials
- Glycogen storage disease V 2 trials
- Glycogen storage disease VI 2 trials
- Glycogen storage disease due to glycogen branching enzyme deficiency 2 trials Sub-types →
- Glycogen storage disease due to liver phosphorylase kinase deficiency 0 trials · 2 incl. sub-types Sub-types →
- Glycogen storage disorder due to hepatic glycogen synthase deficiency 2 trials
- GYG1-related disorder of glycogen metabolism 0 trials · 1 incl. sub-types Sub-types →
- Lafora disease 1 trial Sub-types →
- Glycogen storage disease VII 1 trial
- Glycogen storage disease due to GLUT2 deficiency 1 trial
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency 1 trial
- Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
- Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
- Polyglucosan body myopathy 1 with or without immunodeficiency 1 trial
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0 trials
- Glycogen storage disease IXd 0 trials
- Glycogen storage disease due to lactate dehydrogenase deficiency 0 trials Sub-types →
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
- Lethal congenital glycogen storage disease of heart 0 trials
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Pyruvate metabolism disorder 0 trials · 31 incl. sub-types
4 sub-types
- Disorder of glycolysis 1 trial · 27 incl. sub-types Sub-types →
- Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
- Mitochondrial pyruvate carrier deficiency 0 trials
- Pyruvate kinase hyperactivity 0 trials
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Disorder of fatty acid and ketone body metabolism 3 trials · 19 incl. sub-types
4 sub-types
- Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types Sub-types →
- Disorder of carnitine cycle and carnitine transport 0 trials · 4 incl. sub-types Sub-types →
- Inborn disorder of ketolysis 0 trials · 1 incl. sub-types Sub-types →
- Ketoacidosis due to monocarboxylate transporter-1 deficiency 0 trials
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Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types
3 sub-types
- Creatine transporter deficiency 6 trials
- AGAT deficiency 1 trial
- Guanidinoacetate methyltransferase deficiency 1 trial
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Tricarboxylic acid cycle disorder 0 trials · 2 incl. sub-types
4 sub-types
- Fumaric aciduria 2 trials
- Infantile cerebellar-retinal degeneration 0 trials
- Oxoglutaricaciduria 0 trials
- Tricarboxylic acid cycle, defect of 0 trials
Most studied deeper sub-types
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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control Stopped earlyThis study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …
Phase 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Pompe disease drug trial halted after just 3 patients
Disease control Stopped earlyThis study tested an oral drug called duvoglustat in adults with Pompe disease, a rare genetic disorder that causes muscle weakness. Only 3 people took part, and the study was stopped early. Researchers looked at safety and whether the drug could improve walking distance and othe…
Phase 2 • Sponsor: Amicus Therapeutics • Aim: Disease control
Last updated Jun 26, 2026 16:43 UTC