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GTR Home > Conditions/Phenotypes > Mitochondrial complex I deficiency

Mitochondrial complex I deficiency

Synonyms
Complex 1 mitochondrial respiratory chain deficiency; Mitochondrial Respiratory Chain Complex I Deficiency; NADH coenzyme Q reductase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Mitochondrial inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)

Summary

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms). [from ORDO]

Available tests

143 tests are in the database for this condition.

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Clinical tests (143 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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