Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
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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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- Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
Journal of Inherited Metabolic Disease
Volume 22, Issue 7 , pp 802-810
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- 1. Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biología Molecular, Universidad Autónoma Madrid, Madrid, Spain
- 2. Servico de Neurología, Hospital Infantil La Paz, Madrid, Spain
- 3. Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France
- 4. Research Unit for Molecular Medicine, Skejby Sygehus, Aarhus, Denmark