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.
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Abbreviations
- MCAD:
-
medium-chain acyl-CoA dehydrogenase deficiency
References
Anonymous, Editorial (1986) Sudden infant death and inherited disorders of fat oxidation. Lancet II:1073
Bachmann C (1987) Diagnosis of urea cycle disorders. Enzyme 38:233–241
Chalmer RA, Roe CR, Stacey TE, Hoppel CL (1984) Urinary excretion ofl-carnitine and acyl-carnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency ofl-carnitine. Pediatr Res 18:1325–1328
Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA (1985) Genetic deficiency of medium-chain acyl Coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 19:671–676
Del Valle JA, Garcia MJ, Merinero B, Perez-Cerda C, Roman F, Jimenez A, Ugarte M, Martinez-Pardo M, Ludena C, Camarero C, Del Olmo R, Duran M, Wadman SK (1984) A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome. J Inherited Metab Dis 7:62–64
Dionisi Vici C, Bachmann C, Gradwohl M, Colombo JP (1988) Determination of medium-chain fatty acids in serum. Clin Chim Acta 172:233–238
Divry P, David M, Gregersen N, Kolvraa S, Christensen E, Collet JP, Dellamonica C, Cotte J (1983) Dicarboxylic aciduria due to medium-chain acyl-CoA dehydrogenase defect. Acta Paediatr Scand 72:943–949
Duran M, Bruinvis L, Ketting D, Klerk JBC de, Wadman SK (1988) Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 34:548–551
Gregersen N, Rosleff F, Kolvraa S, Hobolth N, Rasmussen K, Lauritzen R (1980) Non-ketotic C6−C10 dicarboxylic aciduria: biochemical investigations of two cases. Clin Chim Acta 102:179–189
Harpey JP, Charpentier C, Paturneau-Jouas M (1986) Sudden infant death syndrome and inherited disorders of fat metabolism. Lancet II:1332
Harpey JP, Charpentier C, Paturneau-Jouas M (1987) Erreurs innées du métabolisme, mort subite du nourrisson et mort foetale in-utero. Journ Pediatr (Paris):189–192
Howat AJ, Bennett MJ, Variend S, Shaw L (1984) Deficiency of medium-chain fatty acyl-CoA dehydrogenase presenting as the sudden infant death syndrome. Br Med J 288:976
Howat AJ, Bennett MJ, Variend S, Shaw L, Engel PC (1985) Defects of metabolism of fatty acids in the sudden infant death syndrome. Br Med J 290:1771–1773
McGarry JD, Foster DW (1976) An improved and simplified radioisotopic assay for the determination of free and esterified carnitine. J Lipid Res 17:277–281
Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K (1988) Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl J Med 319:1308–1313
Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA (1985) Diagnostic and therapeutic implications of medium-chain acyl-carnitines in the medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 19:459–466
Roe CR, Millington DS, Maltby DA, Kinnerdrew P (1986) Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. J Pediatr 108:13–18
Rumsby G, Seakins JWT, Leonard JV (1986) A simple screening test for medium-chain acyl-CoA dehydrogenase deficiency. Lancet II:467
Stanley CA, Hale DE, Coates PM, Hall CL, Corkey BE, Yang W, Kelley RI, Gonzales EL, Williamson JR, Baker L (1983) Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res 17:877–883
Stanley CA (1987) New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv Pediatr 34:59–88
Treem WR, Witzleben CA, Piccoli DA, Stanley CA, Hale DE, Coates PM, Watkins JB (1986) Medium-chain and long-chain acyl-CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology 6:1270–1278
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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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Catzeflis, C., Bachmann, C., Hale, D.E. et al. Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings. Eur J Pediatr 149, 577–581 (1990). https://doi.org/10.1007/BF01957697
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DOI: https://doi.org/10.1007/BF01957697