Disease Information for French-Canadian type COX mitochondrial defect

French canadian familial CPOX mitochondrial defect complex;complex type IV developmental delay, connective tissue, brain, liver, muscle but not heart; may morph into leighs syndrome [type 3]; strabismus, hypotonia; episodes of lactic acidosis; 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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