LP182304-8

Pyruvate dehydrogenase E1

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Description

Pyruvate dehydrogenase (PDH) deficiency is a congenital degenerative metabolic disease resulting from a mutation of the pyruvate dehydrogenase complex (PDC) located on the X chromosome. Although defects have been identified in all 3 enzymes of the complex, the E1-α subunit is predominantly the culprit. Malfunction of the citric acid cycle due to PDH deficiency deprives the body of energy and leads to an abnormal buildup of lactate. PDH deficiency is a common cause of lactic acidosis in newborns and often presents with severe lethargy, poor feeding, tachypnea, and cases of death have occurred. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Pyruvate dehydrogenase

Basic Part Properties

Part Name

Pyruvate dehydrogenase E1

Part Display Name

Pyruvate dehydrogenase E1

Part Type

Component (Describes the core component or analyte measured)

Created On

2014-01-03

Construct for LOINC Short Name

PDH E1

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