mitochondrial disease

mitochondrial disease

Any clinically heterogeneous multisystem disease characterized by defects of brain–mitochondrial encephalopathies and/or muscle–mitochondrial myopathies due to alterations in the protein complexes of the electron transport chain of oxidative phosphorylation; MDs include Alper syndrome, Leber's hereditary optic neuropathy, Lowe syndrome, Luft syndrome, Menke's kinky hair syndrome, Zellweger syndrome, MELAS, MERRF, mitochondrial myopathy, rhizomelic chondrodysplasia punctata, and stroke-like episodes. See MELAS, MERRF.

Mitochondrial diseases

Group 1 Progressive external ophthalmoplegias

• Kearns-Sayre disease Ophthalmoplegia plus syndrome

• Ocular myopathy

• Leber's hereditary optic neuropathy–due to a point mutation

Group 2 Mitochondrial encephalomyopathies

• Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

• Myoclonus epilepsy with ragged red fibers

• Leigh syndrome

Group 3 Undefined mitochondrial encephalomyopathies, eg congenital lactic acidosis

Group 4 Mitochondrial myopathies

• Luft syndrome

• Enzyme defects, eg ATPase, cytochrome oxidase