Disease Information for French-Canadian type COX mitochondrial defect

Synonyms:

French Canadian type COX mitochondrial defect

Definition:

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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French canadian familial CPOX mitochondrial defect complex;complex type IV ... (more) (edit)

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▼ Demographics & Risk Factors
▼ Clinical Manifestations
▼ Laboratory Tests
▼ Diagnostic Test Results
▼ Associated Diseases & Rule outs
▼ Disease Mechanism & Classification
▼ Synonyms
▼ External Links Related to French-Canadian type COX mitochondrial defect

Demographics & Risk Factors[next]
- Population Group
  - Population/Pediatrics population
- Sex & Age Groups
  - Population/Child
  - Population/Child-Infant Only
  - Population/Children/all
  - Population/Infant
Clinical Manifestations[previous][top][next]
- Typical Clinical Presentation
  - Presentation/Non diabetic ketoacidosis kids/infants
  - Presentation/Progressive CNS degen/acidosis/myopathy/liver/child
  - Presentation/Progressive dementia/child/infant
  - Stroke syndrome kids/metabolic causes
- Disease Progression
  - Course/Progressive
- Signs & Symptoms
Laboratory Tests[previous][top][next]
- Abnormal Lab Findings (Non Measured)
- Abnormal Lab Findings - Increased
  - Lactic acid/Lactate (Lab)
Diagnostic Test Results[previous][top][next]
- Pathology
Associated Diseases & Rule outs[previous][top][next]
- Rule Outs
- Associated Disease & Complications
Disease Mechanism & Classification[previous][top][next]
- Class
  - CLASS/Pediatric disorders (ex)
- Pathophysiology
  - Pathophysiology/Mitochondrial oxidative respiratory chain defect
  - Pathophysiology/Muscle/Heart/Liver/Brain congenital
  - Pathophysiology/Metabolic myopathy (ex)
  - Pathophysiology/Mitochondrial encephalomyopathy
  - Pathophysiology/Mitochondrial lesion
- Process
  - PROCESS/Autosomal Recessive Incomplete Penetrance
  - PROCESS/Autosomal recessive disorder (ex)
  - PROCESS/Enzyme defect/Metabolic disorder (ex)
  - PROCESS/Metabolic/storage disorder (category)
Synonyms[previous][top][next]
- Synonym
  - Synonym/Complex IV Respiratory chain defect
  - Synonym/COX Deficiency
  - Synonym/COX Deficiency (type 1,2,4) var
  - Synonym/Cox Deficiency French-Canadian type/Var
  - Synonym/Cytochrome C oxidase deficiency (COX) variant
  - Synonym/De Toni-Fanconi syndrome
  - Synonym/de Toni-Fanconi-Debre COX def/ var
  - Synonym/Kearns-Sayre Mitochondrial Myopathy
  - Synonym/Lysosomal Cytochome Oxidase deficiency
  - Synonym/Lysozymal flavinoid Oxidative Deficiency
  - Synonym/Respiratory chain disorders (Complex I,II,II,IV,V)
External Links Related to French-Canadian type COX mitochondrial defect[previous][top]

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