Article
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
American journal of human genetics - 1 Jun 2001
Andresen B S, Dobrowolski S F, O'Reilly L, Muenzer J, McCandless S E, Frazier D M, Udvari S, Bross P, Knudsen I, Banas R, Chace D H, Engel P, Naylor E W, Gregersen N
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial beta-oxidation defect, and it is potentially fatal. Eighty percent of patients are homozygous for a common mutation, 985A-->G, and a further 18% have this mutation in only one disease allele. In addition, a large number of rare disease-causing mutations have been identified and characterized. There is no clear...
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