Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, myopathic form
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.
Also known as Carnitine palmitoyl transferase deficiency type 2, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, myopathic form, Carnitine palmitoyl transferase II deficiency, adult-onset form, carnitine palmitoyl transferase II deficiency, myopathic form, CPT II deficiency, myopathic, stress-induced, CPT2, adult-onset form, CPT2, myopathic form, CPTII, adult-onset form, CPTII, myopathic form — per MONDO