Preferred Label : Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cpt2 deficiency, late-onset; Carnitine palmitoyltransferase II deficiency, adult-onset; Cpt II deficiency, myopathic; Carnitine palmitoyltransferase II deficiency, myopathic;
Description : Carnitine palmitoyltransferase II deficiency is the most common inherited disorder
of mitochondrial long-chain fatty acid oxidation. The most common 'classic' myopathic
form occurs in young adults and is characterized by recurrent episodes of rhabdomyolysis
triggered by prolonged exercise, fasting, or febrile illness (Thuillier et al., 2003).
See also the lethal neonatal (608836) and infantile (600649) forms of the disorder,
which are also caused by mutation in the CPT2 gene.;
Inheritance : Autosomal recessive; Autosomal dominant;
Molecular basis : Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, 600650.0002);
Laboratory abnormalities : Exercise myoglobinuria; Carnitine palmitoyltransferase II deficiency (25% of controls); Creatine kinase normal between episodes; Normal plasma and tissue carnitine; Impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise;
Prefixed ID : #255110;
Origin ID : 255110;
UMLS CUI : C1833508;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
