Дефіцит карнітинпальмітоілтрансферази II, міопатична форма
ORPHA:228302· ICD-10 E71.3· Carnitine palmitoyl transferase II deficiency, myopathic form
Визначення(English summary)
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Infancy