Дефіцит піруваткарбоксилази
ORPHA:3008· ICD-10 E74.4· Pyruvate carboxylase deficiency
Визначення(English summary)
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive, Not applicable
- Вік початку
- Infancy, Neonatal