Дефіцит піруватдегідрогенази Е2
ORPHA:79244· ICD-10 E74.4· Pyruvate dehydrogenase E2 deficiency
Визначення(English summary)
A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood