Pyruvate dehydrogenase E1-beta deficiency
ORPHA:255138· ICD-10 E74.4
Definition
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood