Системний первинний дефіцит карнітину
ORPHA:158· ICD-10 E71.3· Systemic primary carnitine deficiency
Визначення(English summary)
A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal