Article
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Orphanet journal of rare diseases - 5 Oct 2010
Dessein Anne-Frédérique, Fontaine Monique, Andresen Brage S, Gregersen Niels, Brivet Michèle, Rabier Daniel, Napuri-Gouel Silvia, Dobbelaere Dries, Mention-Mulliez Karine, Martin-Ponthieu Annie, Briand Gilbert, Millington David S, Vianey-Saban Christine, Wanders Ronald J A, Vamecq Joseph
Abstract excerpt
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 coma, developed seizures and sequels involving right hemi-body. Urinary excretion of hexanoylglycine and suberylglycine was low during this metabolic...
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