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Disease Information for Mitochondrial respiratory chain defects

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

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

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