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Adolescent myopathic presentation in two sisters with very long‐chain acyl‐CoA dehydrogenase deficiency
Author(s) -
Merinero B.,
Pascual Pascual S. I.,
PérezCerdá C.,
Gangoiti J.,
Castro M.,
Garcia M. J.,
Pascual Castroviejo I.,
VianeySaban C.,
Andresen B.,
Gregersen N.,
Ugarte M.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005553907216
Subject(s) - rhabdomyolysis , medicine , endocrinology , acyl coa dehydrogenase , beta oxidation , compound heterozygosity , pathological , galactosemia , creatine kinase , mutation , dehydrogenase , enzyme , biology , biochemistry , metabolism , gene , galactose
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 (C 14:1 ) 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 Asp 365 His and Arg 410 His 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.