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Mitochondrial complex IV deficiency, nuclear-type

rare

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

Identifiers
MONDO:0033885 Orphanet:254905
Part of
Mitochondrial respiratory chain complex deficiency
Also known as
complex 4 mitochondrial respiratory chain deficiency · complex IV deficiency · COX deficiency · Cytochrome C Oxidase Deficiency · cytochrome-C oxidase deficiency

Subtypes

All diseases Rare only
Disease Subtypes
COX deficiency, benign infantile mitochondrial myopathy
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Mitochondrial complex 4 deficiency, nuclear type 25
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex IV deficiency, nuclear type 10
Mitochondrial complex IV deficiency, nuclear type 11
Mitochondrial complex IV deficiency, nuclear type 12
Mitochondrial complex IV deficiency, nuclear type 14
Mitochondrial complex IV deficiency, nuclear type 15
Mitochondrial complex IV deficiency, nuclear type 16
Mitochondrial complex IV deficiency, nuclear type 17
Mitochondrial complex IV deficiency, nuclear type 18
Mitochondrial complex IV deficiency, nuclear type 19
Mitochondrial complex IV deficiency, nuclear type 20
Mitochondrial complex IV deficiency, nuclear type 21
Mitochondrial complex IV deficiency, nuclear type 22
Mitochondrial complex IV deficiency, nuclear type 23
Mitochondrial complex IV deficiency, nuclear type 24
Mitochondrial complex IV deficiency, nuclear type 3
Mitochondrial complex IV deficiency, nuclear type 4
Mitochondrial complex IV deficiency, nuclear type 7
Mitochondrial complex IV deficiency, nuclear type 8
Pancreatic insufficiency-anemia-hyperostosis syndrome

Rare disease

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