Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings

C. Catzeflis, C. Bachmann, D. E. Hale, P. M. Coates, U. Wiesmann, J. P. Colombo, F. Joris, G. Délèze

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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.

Original languageEnglish (US)
Pages (from-to)577-581
Number of pages5
JournalEuropean Journal of Pediatrics
Volume149
Issue number8
DOIs
StatePublished - May 1 1990

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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    Catzeflis, C., Bachmann, C., Hale, D. E., Coates, P. M., Wiesmann, U., Colombo, J. P., Joris, F., & Délèze, G. (1990). Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings. European Journal of Pediatrics, 149(8), 577-581. https://doi.org/10.1007/BF01957697