Journal of Inherited Metabolic Disease

, Volume 22, Issue 7, pp 802–810 | Cite as

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

  • B. Merinero
  • S. I. Pascual Pascual
  • C. Pérez-Cerdá
  • J. Gangoiti
  • M. Castro
  • M. J. Garcia
  • I. Pascual Castroviejo
  • C. Vianey-Saban
  • B. Andresen
  • N. Gregersen
  • M. Ugarte
Article

Abstract

Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in the younger. The finding of increased levels of cis-5-tetradecenoic acid (C14:1) in plasma, severe hypocarnitinaemia and the absence of a pathological dicarboxylic aciduria in both sisters suggested a very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Reduced [1-14C]palmitate oxidation and deficient mitochondrial VLCAD activity in fibroblasts were found. Mutation analysis revealed compound heterozygosity for Asp365His and Arg410His changes. This late-onset, milder clinical presentation differs from the other two more severe infantile phenotypes described, since there is no hypoglycaemia or cardiac disease. Fatty acid oxidation defects should be investigated in all cases with rhabdomyolysis beginning in adolescence or early adulthood.

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Copyright information

© Kluwer Academic Publishers 1999

Authors and Affiliations

  • B. Merinero
    • 1
  • S. I. Pascual Pascual
    • 2
  • C. Pérez-Cerdá
    • 1
  • J. Gangoiti
    • 1
  • M. Castro
    • 1
  • M. J. Garcia
    • 1
  • I. Pascual Castroviejo
    • 2
  • C. Vianey-Saban
    • 3
  • B. Andresen
    • 4
  • N. Gregersen
    • 4
  • M. Ugarte
    • 1
  1. 1.Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biología MolecularUniversidad Autónoma MadridMadridSpain
  2. 2.Servico de NeurologíaHospital Infantil La PazMadridSpain
  3. 3.Unité d'Etude des Maladies MétaboliquesHôpital DebrousseLyonFrance
  4. 4.Research Unit for Molecular Medicine, Skejby SygehusAarhusDenmark

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