inborn mitochondrial metabolism disorder
Findings
No curated finding names inborn mitochondrial metabolism disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Definition from the Mondo Disease Ontology (MONDO:0004069), read 2026-09-29. CC BY 4.0.
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (14)
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
- fumaric aciduria
- histiocytoid cardiomyopathy
- HSD10 mitochondrial disease
- hypotonia-cystinuria syndrome
- inborn mitochondrial myopathy
- inherited lipoic acid biosynthesis defect
- mitochondrial membrane transport disorder
- mitochondrial oxidative phosphorylation disorder
- mitochondrial pyruvate carrier deficiency
- multiple acyl-CoA dehydrogenase deficiency
- OPA1-related optic atrophy with or without extraocular features
- oxoglutaricaciduria
- pyruvate dehydrogenase deficiency