PDHB

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Pyruvate dehydrogenase E1-beta deficiency

PDHBD

An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.

None

The disease is caused by variants affecting the gene represented in this entry.

• Mitochondrion matrix

PHE1B, PDHB, PDHE1-B

• entrezGene:5162
• omim:179060
• swissprot:P11177

Proteins

Metabolism

39233Da