Literature DB >> 20434892

[Infant coma in the emergency department: 2 cases of MCAD deficiency].

M Hoflack1, C Caruba, G Pitelet, H Haas, J-C Mas, V Paquis, E Berard.   

Abstract

Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intestinal intussusception in its neurological form. Early recognition of MCAD and presymptomatic treatment of intercurrent illness improve the prognosis over the short- and long-term. MCAD deficiency satisfies the major criteria for newborn screening. We report the cases of 2 patients whose presentation was typical and severe. Early diagnosis of MCAD deficiency helped to start a simple treatment in both patients aimed at preventing further decompensation. Copyright (c) 2010 Elsevier Masson SAS. All rights reserved.

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Year:  2010        PMID: 20434892     DOI: 10.1016/j.arcped.2010.03.011

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  3 in total

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Journal:  J Clin Med       Date:  2022-05-23       Impact factor: 4.964

2.  Predicting the impact of diet and enzymopathies on human small intestinal epithelial cells.

Authors:  Swagatika Sahoo; Ines Thiele
Journal:  Hum Mol Genet       Date:  2013-03-13       Impact factor: 6.150

3.  Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Authors:  Maria Luz Couce; Paula Sánchez-Pintos; Luisa Diogo; Elisa Leão-Teles; Esmeralda Martins; Helena Santos; Maria Amor Bueno; Carmen Delgado-Pecellín; Daisy E Castiñeiras; José A Cocho; Judit García-Villoria; Antonia Ribes; José M Fraga; Hugo Rocha
Journal:  Orphanet J Rare Dis       Date:  2013-07-10       Impact factor: 4.123

  3 in total

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