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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 04-05-2010
Symbol CPT2
Location 1p32.3
Name carnitine palmitoyltransferase II defect
Corresponding gene CPT2
related resource MITOP database
Main clinical features
  • adult form, myopathy with cramps, stiffness and myoglobinuria triggered by exercice, fasting and other metabolic stresses, with abnormal acylcarnitine profil
  • Genetic determination autosomal recessive
    Related entries including periodic febrile myalgia and myoglobinuria
    Function/system disorder neuromuscular
    metabolism/organic acid
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense     S113L prominent (homozygous mutation)in mild myopathic form, allowing residual fatty acid oxidation in fibroblasts
    Genotype/Phenotype correlations
  • R631C mutation is not exclusively detected in the infantile form but it may be present in a wider spectrum of CPT2 phenotypes. ( indirectly suggesting that other modulators may influence clinical severity of CPT2 deficiency) (Musumeci 2007)