Disease Information for Pyruvate Dehydrogenase Complex Deficiency/PDCD

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Clinical Manifestations
Signs & Symptoms
Anorexia in Children
Hypotonia
Ataxia
Episodic ataxia
Infant Seizures
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Seizures/Children/recurrent
Staggering Gait
Weakness/Diffuse motor loss
Rapid Breathing
Tachypnea/Increased respiratory rate
Psychomotor retardation
Dysmorphic appearance/face
Episodic symptoms/events
Weakness
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Intermittant
Course/Potentially lethal/untreated
Lethal Potential
Onset infancy/worst variant
Onset/Childhood
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant male
Population/Male
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
Death Outcome
Hypoglycemia
Hypoglycemia, infantile
Kreb cycle/EM cycle metabolic defect
Lactic acidosis
Mental retardation
Neurodevelopmental disorders
Primary lactic acidemias
Ataxia Disorder
Disease Synergy - Causes
Synergy/Carbohydrate excess/diet
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Some involve Gene PHE1A on X Cromosome
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/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Subsets/Variable dominance/sex linkage
Synonyms
Synonym
ATAXIA INTERMITTENT WITH ABNORMAL PYRUVATE METABOLISM, ATAXIA INTERMITTENT WITH PYRUVATE DEHYDROGENASE OR DECARBOXYLASE DEFICIENCY, Ataxia with lactic acidosis, ATAXIA WITH LACTIC ACIDOSIS I, Deficiency Disease PDHC, Deficiency Diseases PDHC, Deficiency of pyruvate dehydrogenase (cytochrome), Deficiency of pyruvic dehydrogenase, deficiency pyruvate dehydrogenase, dehydrogenase pyruvate deficiency, PDH Pyruvate dehydrogenase deficiency, PDH deficiency, PDH Pyruv dehydrogenase defic, PDHC DEFIC DIS, PDHC Deficiency Disease, PDHC Deficiency Diseases, PYRUVATE DECARBOXYLASE DEFICIENCY, pyruvate dehydrogenase complex (PDHC) deficiency, PYRUVATE DEHYDROGENASE COMPLEX DEFIC DIS, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex deficiency (disorder), Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate dehydrogenase defic, pyruvate dehydrogenase deficiency, Synonym/Congenital lactic acidemia/acidosis
Definition

One of the primary lactic acidemias/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 decarboxylase [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; the THIRD large group is 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----------------------------------

PDCD or PDH deficiency ; synonyms:intermittent ataxia with pyruvate dehydrogenase deficiency ,lactic and pyruvate acidemia with carbohydrate sensitivity,lactic and pyruvate acidemia with episodic ataxia and weakness; Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one or more enzymes in the pyruvate dehydrogenase complex; The age of onset and severity of disease depends on the activity level of the PDC enzymes; Individuals with PDCD beginning prenatally or in infancy usually die in early childhood; Those who develop PDCD later in childhood may have mental retardation and other neurological symptoms and usually survive into adulthood; approximately 25% of individuals with PDCD have an abnormality in the PHE1A gene located on the X chromosome; Approximately 75% of affected individuals have a form of the disorder that follows autosomal recessive inheritance-------------[NORD 2005]---------

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External Links Related to Pyruvate Dehydrogenase Complex Deficiency/PDCD
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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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