Disease Information for Primary lactic acidemia/children

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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)
Pathophysiology
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Mitochondrial lesion
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Genetic expressivity variable (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Synonyms
Synonym
Primary lactic acidemia children, Synonym/Congenital lactic acidemia/acidosis
Definition

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
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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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