Catalog

Carnitine palmitoyltransferase II deficiency, myopathic form

No MMS code

Link to WHO Definition

Carnitine palmitoyltransferase II deficiency, myopathic form – http://id.who.int/icd/entity/93488909

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. The clinical manifestations are characterised by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness.