Disease Information for Infantile mitochondrial myopathy/Cox defect

Synonyms:

Complex IV deficiency, COX Cytochrome C oxidase deficiency, COX Cytochrome C oxidase defic, COX DEFICIENCY, CYTOCHROME C OXIDASE DEFIC, Cytochrome C oxidase deficien, Cytochrome c Oxidase Deficiencies, Cytochrome C oxidase deficiency, Cytochrome C oxidase deficiency (disorder), CYTOCHROME OXIDASE DEFIC, Cytochrome Oxidase Deficiencies, Cytochrome Oxidase Deficiency, DEFIC CYTOCHROME OXIDASE C, Deficiencies Cytochrome c Oxidase, Deficiencies Cytochrome Oxidase, Deficiency Cytochrome c Oxidase, Deficiency Cytochrome Oxidase, Deficiency of cytochrome a3, Deficiency of cytochrome aa3, Deficiency of cytochrome c oxidase, Deficiency of cytochrome c oxidase (disorder), Deficiency of cytochrome oxidase, Infantile, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MTCO1*COX6480A, Oxidase Deficiencies Cytochrome, Oxidase Deficiencies Cytochrome c, Oxidase Deficiency Cytochrome, Oxidase Deficiency Cytochrome c

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Complex IV deficiency, COX Cytochrome C oxidase deficiency, COX Cytochrome... (more)

Definition:

This is Type II of IV COX Defects; Variant of COX mitochondrial defect/deficiency; mild to moderate;Cytochrome C Oxidase Deficiency [Lysozyme Cytochrome Oxidase Deficiency]; Cox deficiency; deficiency of mitochondrial respiratory chain complex IV; Complex IV deficiency disorder; divisions into A) Benign infantile mitochondrial myopathy Cox Deficiency B)De toni-Fanconi-debre C)Leighs subacute necrotizing encephalopathy)D)French Canadian type COX deficiency----------------------- [Emedicine/MedlinePlus 2005]-----------

Cause of acidosis in kids, stroke like syndromes complex 1, and complex 4, flavinoid defect; Clinical spectrum myopathy, heart muscle dis, renal disease; lactic acidosis; CNS mental motor developmental delays; autosomal recessive with sporatic mutations which may be dominant; mitochondrial DNA may be site of mutation but not usual; maternal inheritance then expected with milder forms;

Unclassified Cytochrome C Oxidase Deficiency diagnosis

will have myopathy, lactic acidosis, cardiac and mental retardation likely----------[NIH/OMIM 2005]---------------

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This is Type II of IV COX Defects; Variant of COX mitochondrial defect/defi... (more) (edit)

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