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Pascual Pascual, Samuel IgnacioAutor o CoautorUgarte Perez, MagdalenaAutor o CoautorPascual Castroviejo, IgnacioAutor o CoautorCastro, MAutor o Coautor

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

Publicado en:Journal Of Inherited Metabolic Disease. 22 (7): 802-810 - 1999-01-01 22(7), DOI: 10.1023/A:1005553907216

Autores: Pascual Castroviejo, Ignacio; Ugarte Perez, Magdalena; Pascual Pascual, Samuel Ignacio; Merinero, B; Pascual, Sip; Pascual Pascual, S I; Perez-Cerda, C; Gangoiti, J; Castro, M; Garcia, MJ; Garcia, M J; Castroviejo, IP; Vianey-Saban, C; Andresen, B; Gregersen, N

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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-(14)C]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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