Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency

Pediatr Neurol. 2009 Aug;41(2):151-3. doi: 10.1016/j.pediatrneurol.2009.02.020.


A male neonate demonstrated fetal distress, neonatal asphyxia, and transient hyper-creatine kinase-emia (8400IU/L), followed by repeated episodes of rhabdomyolysis 1-2 times/year during infancy and early childhood. At age 6 years, decreased levels of total and free carnitine in serum, and mild fiber size variation and increased fatty droplets in muscle, were confirmed. Both blood and serum fatty-acid analysis demonstrated elevated 5-tetradecenoate levels, and the acyl-CoA dehydrogenase activity of the palmitoyl-CoA/octanoyl-CoA ratio decreased in skin fibroblasts. The sequenced clone analysis of a complimentary DNA fragment revealed a compound heterozygote mutation of exon 9 (A790G) and exon 10 (997 ins T), which is a novel mutation of a myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency. The patient has reached age 13 years. By treatment with an avoidance of fasting, feeding with a high-carbohydrate and low-fat diet, and intravenous drip infusion soon after every onset of rhabdomyolysis, his physical and mental development has stayed within the normal range. Patients with a perinatal onset of myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency have not yet been reported. His novel mutation might be related to his clinical characterization.

Publication types

  • Case Reports

MeSH terms

  • Acyl Coenzyme A / metabolism
  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Acyl-CoA Dehydrogenase, Long-Chain / genetics*
  • Age of Onset
  • Carnitine / blood
  • DNA Mutational Analysis
  • Fibroblasts / enzymology
  • Humans
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / therapy
  • Muscles / pathology
  • Mutation
  • Palmitoyl Coenzyme A / metabolism
  • Rhabdomyolysis / blood
  • Skin / enzymology
  • Treatment Outcome


  • Acyl Coenzyme A
  • octanoyl-coenzyme A
  • Palmitoyl Coenzyme A
  • Acyl-CoA Dehydrogenase, Long-Chain
  • Carnitine