Carnitine palmitoyl transferase II deficiency, myopathic form
ORPHA:228302· ICD-10 E71.3
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy