Disease Information for Pyruvate Dehydrogenase Complex Deficiency/PDCD

Synonyms:

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

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ATAXIA INTERMITTENT WITH ABNORMAL PYRUVATE METABOLISM, ATAXIA INTERMITTENT ... (more)

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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