Article
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
Orphanet journal of rare diseases - 20 Mar 2013
Touw Catharina M L, Smit G Peter A, Niezen-Koning Klary E, Bosgraaf-de Boer Conny, Gerding Albert, Reijngoud Dirk-Jan, Derks Terry G J
Abstract excerpt
BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal screening for MCAD deficiency, a subgroup of newborns have been identified with variant ACADM genotypes that had never been identified before in clinically ascertained patients. In vitro residual...
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