Дефіцит карнітин пальмітоїлтрансферази 1А
ORPHA:156· ICD-10 E71.3· Carnitine palmitoyl transferase 1A deficiency
Визначення(English summary)
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal