Catalog

Mitochondrial myopathy with complex I deficiency

No MMS code

Link to WHO Definition

Mitochondrial myopathy with complex I deficiency – http://id.who.int/icd/entity/1663944846

Complex I deficiency (reduced nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase) is the most common cause mitochondrial disorders. Although the clinical presentations and genetic etiologies are highly diverse due to genetic and biochemical complexity, some typical manifestations include progressive encephalomyopathy, leukodystrophy, Leigh syndrome, lactic acidosis, and stroke-like episodes. The identified genetic causes of complex I deficiency range from mutations in structure component encoding genes to assembly factor encoding genes, or various enzymes involved in production of electron carriers or maintenance of mitochondrial DNA integrity.