PDHB
Function
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.
Involvement in disease
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.
Cellular localization
- Mitochondrion matrix
Alternative names
PHE1B, PDHB, PDHE1-B