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

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-(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.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Merinero B,Pascual Pascual SI,Pérez-Cerdá C,Gangoiti J,Castro M,Garcia MJ,Pascual Castroviejo I,Vianey-Saban C,Andresen B,Gregersen N,Ugarte M

doi

10.1023/a:1005553907216

keywords:

subject

Has Abstract

pub_date

1999-10-01 00:00:00

pages

802-10

issue

7

eissn

0141-8955

issn

1573-2665

journal_volume

22

pub_type

杂志文章

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