Isolated complex III deficiency

Orpha code: 1460OMIM code: 616111

Definicja

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

Disease data
Klasyfikacja

Disease

Synonimy
Isolated CoQ-cytochrome C reductase deficiency
Izolowany Niedobór kompleksu III mitochondrialnego łańcucha oddechowego
Izolowany Niedobór reduktazy koenzymu Q-cytochromu C
Izolowany Niedobór reduktazy ubichinionu-cytochromu C
Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated ubiquinone-cytochrome C reductase deficiency
Kod ORPHA
1460
Kod OMIM
616111
Kod ICD10
G71.3
Kod ICD11
5C53.2Y

No additional description.

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