Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis

BMJ Case Rep. 2018 Jun 11:2018:bcr2018224272. doi: 10.1136/bcr-2018-224272.

Abstract

Rhabdomyolysis is an emergency requiring rapid diagnosis and suitable aetiological treatment. We describe the case of a 57-year-old man with recurrent exertional rhabdomyolysis who was diagnosed with systemic primary carnitine deficiency (SPCD). Clinical examination was normal, creatine kinase levels were elevated, plasma free carnitine concentration was mildly decreased, muscle biopsy demonstrated lipid accumulation, carnitine uptake in cultured fibroblasts was decreased and genetic analysis identified a homozygous pathologic c.1181_1183del in the SLC22A5 gene. Rhabdomyolysis did not recur after treatment with oral L-carnitine was introduced. SPCD is a rare autosomal recessive disorder of carnitine transportation usually manifesting as an infantile (hepatic) or a childhood myopathic (cardiac) condition and rarely affecting adults. Our case indicates that SPCD should be considered in the aetiological evaluation of adult patients with recurrent exertional rhabdomyolysis, even in the absence of myopathy and cardiomyopathy.

Keywords: genetic screening / counselling; muscle disease; pathology.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies / complications*
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / drug therapy
  • Cardiomyopathies / genetics
  • Carnitine / deficiency*
  • Carnitine / genetics
  • Carnitine / therapeutic use
  • Genetic Testing
  • Humans
  • Hyperammonemia / complications*
  • Hyperammonemia / diagnosis
  • Hyperammonemia / drug therapy
  • Hyperammonemia / genetics
  • Lipid Metabolism
  • Male
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscular Diseases / complications*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / drug therapy
  • Muscular Diseases / genetics
  • Rhabdomyolysis / etiology*
  • Rhabdomyolysis / metabolism

Substances

  • Carnitine

Supplementary concepts

  • Systemic carnitine deficiency