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 origin Inborn disorder of energy metabolism Mitochondrial disease
Also known as: mitochondrial genetic disorders

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Mitochondrial oxidative phosphorylation disorder	MONDO:0016387	268
Inborn mitochondrial myopathy	MONDO:0009637	70
Inherited lipoic acid biosynthesis defect	MONDO:0018424	17
Mitochondrial membrane transport disorder	MONDO:0016800	7
Pyruvate dehydrogenase deficiency	MONDO:0019169	7
Multiple acyl-CoA dehydrogenase deficiency	MONDO:0009282	5
HSD10 mitochondrial disease	MONDO:0010327	3	HSD17B10
OPA1-related optic atrophy with or without extraocular features	MONDO:0800181	1
Histiocytoid cardiomyopathy	MONDO:0010771	1
Hypotonia-cystinuria syndrome	MONDO:0011669	1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	MONDO:0013875
Fumaric aciduria	MONDO:0011730		FH
Mitochondrial pyruvate carrier deficiency	MONDO:0013877		MPC1
Oxoglutaricaciduria	MONDO:0008759		OGDH

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