Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

摘要: More than 15 years ago glutaric aciduria type I has been included in newborn screening programmes and pilot studies evaluating the potential benefit of early diagnosis start metabolic treatment for patients with this disease have initiated. At that time many important questions on epidemiology, diagnostic quality, natural history, treatment, cost effectiveness were not sufficiently answered. In particular, it was rather unknown whether improves outcome. After implementation an increasing number countries, careful evaluation course impact there is now solid evidence affected individuals do substantial a cost-effective intervention. Despite success, are still limitations concerning sensitivity low excreting phenotype knowledge long-term conclusion, become evident tandem mass spectrometry-based powerful tool to prevent manifestation prognostically-relevant movement disorders majority diagnosed patients.