title: Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
abstract: BACKGROUND
  Mitochondrial trifunctional protein deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid β-oxidation that may be due to mutations in 2 different nuclear genes, HADHA and HADHB. Perturbation of this multienzyme complex compromises the oxidation of long-chain fatty acids, which leads to multiorgan dysfunction. Childhood- or adolescent-onset recurrent rhabdomyolysis is a common muscular manifestation and is preceded frequently by clinically overt peripheral neuropathy.
  
  
  METHODS
  In this report we describe a patient with late adult-onset recurrent rhabdomyolysis.
  
  
  RESULTS
  Despite normal sensory examination, nerve conduction studies showed a mild axonal peripheral neuropathy. The acylcarnitine profile showed elevated long-chain and 3-hydroxy long-chain acylcarnitine species. HADHA sequencing revealed known compound heterozygous mutations c.180+3A>G (p.Thr37SerfsX6) and c.1528G>C (p.Glu510Gln). During a 10-month follow-up period, he had no further episodes of rhabdomyolysis after appropriate dietary modifications.
  
  
  CONCLUSIONS
  Mitochondrial trifunctional protein deficiency should be considered in patients with adult-onset recurrent rhabdomyolysis, especially in those with either clinically overt or subclinical peripheral neuropathy.
authors.affiliation: Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Manpreet S
authors.initials: MS
authors.lastname: Mundi
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Mauermann
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008297:Male; D008875:Middle Aged; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency*; D012206:Rhabdomyolysis / Q000209:etiology*
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D063991:Mitochondrial Trifunctional Protein
keywords: HADHA; HADHB; long-chain fatty acid; mitochondrial trifunctional protein deficiency; peripheral neuropathy; rhabdomyolysis