Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

摘要: BACKGROUND Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Undiagnosed, it has a mortality rate 20–25%. Neonatal screening for disorder now possible but not known whether this would alter prognosis. OBJECTIVE To investigate outcome MCAD after diagnosis been established. METHOD All patients with proved attending one centre in four year period were reviewed. RESULTS Forty identified. Follow up was median 6.7 years (range, 9 months to 14 years). Nearly half admitted hospital symptoms characteristic before correct made. After diagnosis, two severe encephalopathy there no additional deaths or appreciable morbidity. There high incidence (about fifth) previous sibling among cohort. CONCLUSIONS results considerable and However, current management improves outcome, supporting view that should be included newborn programmes.