A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome |
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Authors: | J. A. Del Valle M. J. Garcia B. Merinero C. Pérez-Cerdá F. Roman A. Jimenez M. Ugarte M. Martínez-Pardo C. Ludeña C. Camarero R. del Olmo M. Duran S. K. Wadman |
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Affiliation: | (1) Centro de Diagnóstico de Enfermedades Moleculares, Dpto. de Bioquimica y Biología Molecular, Facultad de Ciencias, Universidad Autónoma, Madrid 34, Spain;(2) Departamento de Pediatria, Centro Especial Ramón y Cajal, Madrid 34, Spain;(3) University Children's Hospital, Het Whilhelmina Kinderziekenhuis, Nieuwe Gracht 137, Utrecht, The Netherlands |
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Abstract: | A new patient with medium-chain dicarboxylic aciduria and suberyl glycinuria during an attack of acute illness is reported. When, inadvertently he was given medium-chain triglycerides for 2 days, the excretion of abnormal metabolites of medium-chain fatty acids increased and hepatomegaly became more pronounced. During remission a low excretion of the metabolites were observed. After 16 h of fasting hypoglycaemia was accompanied by an increase of urinary dicarboxylic acids and -hydroxyacids similar to that found on admission. Interestingly this urinary organic acid pattern persisted 8 h after intravenous administration of glucose. In a blood sample obtained after 16 h of fasting there was hypoketonaemia and increased levels of total free fatty acids, octanoic, decanoic andcis-4-decenoic acids. These biochemical data suggest the existence of a deficiency at the level of medium-chain acyl-CoA dehydrogenase. |
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