Disease Information for Pyruvate Dehydrogenase Complex Deficiency/PDCD

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]---------

(Edit)