The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
O'Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier DM, Winter V, Gregersen N, Engel PC, Andresen BS. The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. Eur J Biochem. 2004 Oct; 271(20):4053-63.