Pyruvate Dehydrogenase Complex Deficiency
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NORD is very grateful to Richard E. Frye, MD, PhD, FAAP, Department of Pediatrics, Division of Child Neurology, Arkansas Children's Hospital Research Institute, University of Arkansas, for assistance in the preparation of this report.
Synonyms of Pyruvate Dehydrogenase Complex Deficiency
- intermittent ataxia with pyruvate dehydrogenase deficiency
- lactic and pyruvate acidemia with carbohydrate sensitivity
- lactic and pyruvate acidemia with episodic ataxia and weakness
- PDH deficiency
- No subdivisions found.
Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex (PDC). 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. Most individuals with PDCD have an abnormality in the PDHA1 gene located on the X chromosome. Some affected individuals have rarer forms of the disorder that follow autosomal recessive inheritance.Some individuals have a thiamine responsive form of this disorder.
Organizations related to Pyruvate Dehydrogenase Complex Deficiency
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