A novel mutation of the <it>ACADM </it>gene (c.145C>G) associated with the common c.985A>G mutation on the other <it>ACADM </it>allele causes mild MCAD deficiency: a case report

A novel mutation of the <it>ACADM </it>gene (c.145C>G) associated with the common c.985A>G mutation on the other <it>ACADM </it>allele causes mild MCAD deficiency: a case report

<p>Abstract</p> <p>A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was sub-febrile and hypoglycemic, fell into com...

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Bibliographic Details
Main Authors: Briand Gilbert, Martin-Ponthieu Annie, Mention-Mulliez Karine, Dobbelaere Dries, Rabier Daniel, Napuri-Gouel Silvia, Brivet Michèle, Gregersen Niels, Andresen Brage S, Fontaine Monique, Dessein Anne-Frédérique, Millington David S, Vianey-Saban Christine, Wanders Ronald JA, Vamecq Joseph
Format: Article
Language:English
Published: BMC 2010-10-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/5/1/26

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http://www.ojrd.com/content/5/1/26

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