Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced

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;

Details

Origin ID

255110;

UMLS CUI

C1833508;

Broader ORDO disease(s)
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase 2 deficiency [MeSH concept]
- Carnitine palmitoyl transferase II deficiency, myopathic form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
- Carnitine palmitoyltransferase II deficiency, myopathic form [ICD-11 More detail]
- carnitine palmitoyl transferase 2 deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency [DO Concept]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH concept]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH Supplementary Concept]
DO Cross reference
- carnitine palmitoyltransferase II deficiency [DO Concept]
Genes related to phenotype
- Carnitine palmitoyltransferase II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Muscle spasm [HPO term]
- Muscle stiffness [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Myoglobinuria [HPO term]
- Renal insufficiency [HPO term]
- Rhabdomyolysis [HPO term]
ORDO concept(s)
- Carnitine palmitoyl transferase II deficiency, myopathic form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine palmitoyl transferase II deficiency, myopathic form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, myopathic form [ICD-11 More detail]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH concept]
Validated automatic mappings to NTBT
- Carnitine Palmitoyltransferase II Deficiency [NCIt concept]
- Carnitine palmitoyltransferase II deficiency [ICD-11 More detail]
- carnitine palmitoyltransferase 2 deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients