Pyruvate dehydrogenase E1-alpha deficiency
ORPHA:79243· ICD-10 E74.4
Definition
A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
- Prevalence
- Unknown
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal