Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency |
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| Authors: | A Ribes E Riudor B Garavaglia G Martinez A Arranz F Invernizzi P Briones E Lamantea M Sentís A Barceló M Roig |
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| Institution: | (1) Department of Inborn Errors of Metabolism, Institut de Bioquímica Clínica, Corporació Sanitària Edificio Helios III, C/Mejía Lequerica s/n, E-08028 Barcelona, Spain, Fax: 343 227 56 68, Tel: 343 227 56 00, ES;(2) Department of Paediatrics and Laboratory of Metabolism, Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain, ES;(3) Department of Biochemistry and Genetics, Istituto Neurologico Carlo Besta, Milano, Italy, IT |
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| Abstract: | Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of conciousness being
the only relevant clinical finding in the other. Organic acid analysis revealed that ethylmalonate was constantly, although
sometimes only slightly, increased. No abnormal acylglycines or acylcarnitines could be detected. Enzyme assay in cultured
skin fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency.
Conclusion The lack of appropriate biochemical markers for this deficiency makes the diagnosis difficult and consequently, the low number
of patients described may be the result of underdiagnosis.
Received: 11 June 1997 and in revised form 4 November 1997 / Accepted: 10 November 1997 |
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| Keywords: | Mitochondrial fatty acid oxidation Short-chain acyl-CoA dehydrogenase deficiency Ethylmalonic aciduria |
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