Дефіцит карнітинпальмітоілтрансферази II
ORPHA:157· ICD-10 E71.3· Carnitine palmitoyltransferase II deficiency
Визначення(English summary)
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- All ages