Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings |
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| Authors: | C. Catzeflis C. Bachmann D. E. Hale P. M. Coates U. Wiesmann J. P. Colombo F. Joris G. Délèze |
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| Affiliation: | (1) Department of Paediatrics, Regional Hospital of Sion, Switzerland;(2) Department of Clinical Chemistry, University of Lausanne, CH-1011 Lausanne, Switzerland;(3) The Children's Hospital of Philadelphia, USA;(4) The Pathology Institute of the Hospitals of Valais, Sion, Switzerland;(5) Department of Clinical Chemistry and of Paediatrics, University of Berne, Switzerland |
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| Abstract: | Two siblings are reported who were syptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem examination showed steatosis of the liver, kidney and muscle. In the second, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was diagnosed at 3 days of age with muscular hypotonia, vomiting, hyperammonaemia and mild acidosis. Thus disorders of fatty acid oxidation should also be considered in newborns. The biochemical work up indicates that in neonates, analysis of serum medium-chain fatty acids and of acyl and free carnitine are more likely to lead to a diagnosis than determining dicarboxylic acids alone in urine. Long-term treatment was effective and monitored by the acyl/free carnitine ratio.An abstract relating the initial findings of this patient was published by Catzeflis C, Délèze G, Kuchler H, Spahr A, Schütz B, Bachmann C (1987) Helv Paediatr Acta 42:47 |
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| Keywords: | Medium-chain acyl-CoA dehydrogenase deficiency Fatty acid oxidation sudden infant death syndrome Organic aciduria |
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