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Inborn mitochondrial metabolism disorder

rare

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.

Identifiers
MONDO:0004069 Orphanet:68380
Part of
Developmental anomaly of metabolic originInborn disorder of energy metabolismMitochondrial disease
Also known as
mitochondrial genetic disorders

Subtypes

All diseases Rare only
Disease Subtypes
Mitochondrial oxidative phosphorylation disorder 270
Inborn mitochondrial myopathy 70
Inherited lipoic acid biosynthesis defect 17
Mitochondrial membrane transport disorder 7
Pyruvate dehydrogenase deficiency 7
Multiple acyl-CoA dehydrogenase deficiency 5
HSD10 mitochondrial disease 3
OPA1-related optic atrophy with or without extraocular features 1
Histiocytoid cardiomyopathy 1
Hypotonia-cystinuria syndrome 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Fumaric aciduria
Mitochondrial pyruvate carrier deficiency
Oxoglutaricaciduria

Rare disease

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