[Infant coma in the emergency department: 2 cases of MCAD deficiency]. / Coma du nourrisson aux urgences: 2 cas de déficit en MCAD.
Arch Pediatr
; 17(7): 1074-7, 2010 Jul.
Article
em Fr
| MEDLINE
| ID: mdl-20434892
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Coma
/
Acil-CoA Desidrogenase
/
Erros Inatos do Metabolismo Lipídico
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
França