Preferred Label : Carnitine palmitoyltransferase II deficiency, myopathic form;
ICD-11 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. The clinical
manifestations are characterized 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.;
Origin ID : 93488909;
UMLS CUI : C1833508;
CISMeF manual mappings
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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 characterized 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.
