Pyruvate dehydrogenase E3-alpha deficiency

Definition:

Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and structural anomalies in the brain, as Leigh syndrome. The great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene.

References:

[1]. Dahl, H H. Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.Am J Hum Genet. 1995 Mar;56(3):553-7. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

MedChemExpress: Contact Us; About Us; Headquarters; Distributors; Statement on False Report; Careers

Customer Support: Technical Support; Service; Ordering Information; Easy Return; Shipping Rates & Policies; Intellectual Property Promise

Resources: Free Sample; Resources; Molarity Calculator; Dilution Calculator; Terms & Conditions; Reconstitution Calculator; Specific Activity Calculator

Subscribe to our E-newsletter

Name
Email *

	Sorry, but the email address you supplied was invalid.

Products are chemical reagents for research use only and are not intended for human use. We do not sell to patients.

Join with us