Home LiteratureArticle Details
PMID: 20434892 Published · ppublish fre Case Reports English Abstract Journal Article

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

Coma du nourrisson aux urgences: 2 cas de déficit en MCAD.

Hoflack M, Caruba C, Pitelet G, Haas H, Mas JC, Paquis V, Berard E

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.

MeSH Terms
Acyl-CoA Dehydrogenase/deficiency Carnitine/therapeutic use Coma/etiology Emergency Service, Hospital Female Humans Infant Lipid Metabolism, Inborn Errors/diagnosis,therapy Male Vitamin B Complex/therapeutic use
Chemicals
Vitamin B Complex Acyl-CoA Dehydrogenase Carnitine
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Hoflack M
Service de pédiatrie, hôpital de l'Archet II, 151 route de Saint-Antoine-de-Ginestière, Nice cedex 3, France. [email protected]
Caruba C
Pitelet G
Haas H
Mas J-C
Paquis V
Berard E
Article Info
Journal
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Abbr.
Arch Pediatr
ISSN
1769-664X
Published
2010-07-00
Pages
1074-7
Language
fre
Region
France
NLM ID
9421356
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]