Article
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Journal of inherited metabolic disease - 1 Dec 2010
Al-Hassnan Zuhair N, Imtiaz Faiqa, Al-Amoudi Mohamed, Rahbeeni Zuhair, Al-Sayed Moeen, Al-Owain Mohammed, Al-Zaidan Hamad, Al-Odaib Ali, Rashed Mohamed S
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), caused by mutated ACADM gene, is a potentially fatal fatty acid oxidation defect. Detection of MCADD is now part of tandem mass spectrometry (MS-MS)-based newborn screening programs worldwide. To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.985A>G, being the most common in patients of northwestern European descent....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.