Mutation typing in patients with medium chainAcylCoA dehydrogenase deficiency (MCADD) andPCR based mutation screening in SIDS victims

摘要

We investigated 80 patients affected by medium chain AcylCoA dehydrogenase deficiency (MCADD) in a Geiman population, and found the following frequencies of mutation: 985A>G (81,9%); 157OT (3,1%), 799G>A (3.1%), 244-245 insT (3.1%), 362OT (1.3%) as well as five tare mutations at frequencies below 0 6% About 4 4% of the mutations in our patients remained unidentified. After having carried out a mutation typing procedure, we created rapid tests based on a PCR/electrophoresis technology and investigated the four most frequent mutations Using these screening tests we identified one MCADD case among 409 SIDS victims. These investigations indicate that, in very few cases, MCADD may contribute to SIDS.