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Disease Information for Primary lactic acidemia/children
- Clinical Manifestations
- Signs & Symptoms
- Hypotonia
- Ataxia
- Infant Seizures
- Mental Slowing Deteriation
- Moro Reflex unilateral Abnormal
- Seizures/Children/recurrent
- Staggering Gait
- Stroke Syndrome Child
- Rapid Breathing
- Tachypnea/Increased respiratory rate
- Dysmorphic appearance/face
- Episodic symptoms/events
- Clinical Presentation & Variations
- Presentation/Non diabetic Ketoacidosis Kids infants
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Population Group
- Child
- Population/Pediatrics population
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Cultured fibroblast enzyme assay abnormal (Lab)
- Cultured Fibroblasts Assay Holocarboxylase abnormal
- Enzyme Assay plasma/tissue/fibroblast abnormal
- Mitochondrial DNA analysis defect
- Osmotic gap (low Na/high osmolality) (Lab)
- Serum Enzyme Assay Biotindase Abnormal
- Abnormal Lab Findings - Decreased
- pH, arterial blood (Lab)
- Abnormal Lab Findings - Increased
- Anion gap (Lab)
- Lactic acid/Lactate (Lab)
- Diagnostic Test Results
- Pathology
- BX/Skin fibroblasts enzyme assay abnormal
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Acidosis
- Acidosis, metabolic
- CNS disease/involvement
- Coma in Children
- Coma/Unconscious
- Hypoglycemia
- Hypoglycemia, infantile
- Kreb cycle/EM cycle metabolic defect
- Lactic acidosis
- Metabolic Acidosis with High Anion Gap
- Neurodevelopmental disorders
- Primary lactic acidemias
- Ataxia Disorder
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
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- PROCESS/Enzyme defect/Metabolic disorder (ex)
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- PROCESS/Organic acidemia metabolic disorder (ex)
- Synonyms
- Synonym
- Primary lactic acidemia children, Synonym/Congenital lactic acidemia/acidosis
- Definition
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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 PDPPD/PEP ; 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 Primary lactic acidemia/children
- Wikipedia
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- 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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