title: Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
abstract: Two siblings are reported who were symptomatic 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.
authors.affiliation: Department of Paediatrics, Regional Hospital of Sion, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Catzeflis
authors.forename: C
authors.initials: C
authors.lastname: Bachmann
authors.forename: D E
authors.initials: DE
authors.lastname: Hale
authors.forename: P M
authors.initials: PM
authors.lastname: Coates
authors.forename: U
authors.initials: U
authors.lastname: Wiesmann
authors.forename: J P
authors.initials: JP
authors.lastname: Colombo
authors.forename: F
authors.initials: F
authors.lastname: Joris
authors.forename: G
authors.initials: G
authors.lastname: Délèze
mesh_terms: D000136:Acid-Base Equilibrium; D000208:Acute Disease; D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000367:Age Factors; D000641:Ammonia / Q000097:blood; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D011446:Prospective Studies
chemical_list: D005227:Fatty Acids; D000641:Ammonia; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine