Дефіцит піруватдегідрогенази Е3
ORPHA:2394· ICD-10 E74.4· Pyruvate dehydrogenase E3 deficiency
Визначення(English summary)
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood