Pyruvate dehydrogenase deficiency 3962194 215236600 2008-05-27T09:28:27Z Gideonr0 3434782 {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 30060 | ICD10 = {{ICD10|E|74|4|e|70}} | ICD9 = | ICDO = | OMIM = 312170 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 1969 | MeshID = D015325 }} '''Pyruvate Dehydrogenase Deficiency''' (''PDH'') is a human genetic disease. It follows a dominant inheritance pattern, but is approximately equally prevalent in both males and females, though where there is only one copy of the gene involved from the mother, male foetuses may not be viable. Due to the genes involved being essential to life, some of the genetic causes are extremely rare, in the order of 1 in millions. It affects a gene which codes for a critical enzyme complex, the '''Pyruvate dehydrogenase complex''' (PDC) which links the metabolic pathways of [[glycolysis]] and the [[citric acid cycle]] by transforming [[pyruvate]] into [[Acetyl CoA]] The [[pyruvate dehydrogenase complex]] facilitates [[oxidative decarboxylation]], the chemical reaction between [[glycolysis]] and the [[citric acid cycle]]. ==Presentation== ''PDH'' causes [[Lactic acidosis]]; large amounts of [[lactic acid]] in the blood but with a normal [[pyruvate]]/[[lactic acid|lactate]] ratio. Symptoms are varied, and include developmental defects (especially of the brain and nervous system), muscular [[spasticity]] and early death. ==Genetics== ''PDH'' is most commonly linked to the alpha unit of [[Pyruvate dehydrogenase|E1]], but recessive variants exist. {{Mitochondrial diseases}} {{Carbohydrate metabolic pathology}} [[Category:Diseases]] [[Category:Genetic disorders]] {{disease-stub}}