Disease Information for Mitochondrial respiratory chain defects

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Clinical Manifestations
Signs & Symptoms
Cyanosis
Anorexia in Children
Weight loss in Children
Proximal muscle weakness
Ataxia
Awkward Uncoordinated Child
Dystonia
Headache
Headache in children
Hyperreflexia/DTRs increased
Limb ataxia/clumsiness child
Moro Reflex unilateral Abnormal
Staggering Gait
Stroke Syndrome Child
Cyanosis Child
Weight Loss
Laboratory Tests
Abnormal Lab Findings - Increased
Lactic acid/Lactate (Lab)
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Sudden Infant death syndrome/SIDS
Associated Disease & Complications
Acidosis
Coma in Children
Coma/Unconscious
Cytochrome C Oxidase Deficiency/Mitochondrial
Secondary Dystonia
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Mitochondrial oxidative respiratory chain defect
Synonyms
Synonym
Deficiencies Respiratory Chain, Deficiency Respiratory Chain, Mitochondrial Respiratory Chain Deficiencies, RESPIRATORY CHAIN DEFIC MITOCHONDRIAL, Respiratory Chain Deficiencies Mitochondrial, Respiratory Chain Deficiency, Synonym/Congenital lactic acidemia/acidosis
Definition

see primary lactic acidosis in kids:FIRST group of Primary lactic acidemias in kids is caused by defect in E1 component of pyruvate dehydrogenase complex[decarboxylase]; the dehydrogenase overlaps include pyruvate dearboxylase [E1], dihydrolipoyl transacetylase defect [E2}, and lipoamide dehydrogenase [E3] and pyruvate decarboxylase phosphate phosphatase defect; NEXT group defects in mitochondrial respiratory chain include leigh disease complex IV, Complex I, and ATPase defect; THIRD large group are the gluconeogenesis group including pyruvate decarboxylase [with subsets isolated PDC ,biotinidase and holocarboxylase sythetase defect] and then fructose -1,6-diphosphatase defect and von gierke"s disease [glucose-6-phosphatase defect]------------[current pediatric dxrx 14th ed hay and sondheimer]--------------

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External Links Related to Mitochondrial respiratory chain defects
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NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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