Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) can now be detected by newborn screening by tandem mass spectrometry. The incidence is higher than previously estimated because of the identification of potentially milder later onset variants by screening. Although there is little information in the literature on the optimal management of rare inborn errors, there is a need for management guidelines, especially for non-specialist providers in the community. In the accompanying article, Arnold et al. present a diagnostic and management guideline for VLCAD, developed by the Delphi method for gaining consensus from a panel of 14 metabolic specialists. While consensus was gained for some issues, there was no clear consensus for several important management issues, particularly for the later onset variants. Clearly, there is an urgent need for multinational collaborative protocol driven outcomes studies that will provide the data necessary to establish robust guidelines for inborn errors of metabolism.
Marsden
Deborah Louise
DL
Department of Medicine, Division of Genetics and Metabolism, Boston, MA 02115, USA. deborah.marsden@childrens.harvard.edu
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D002985:Clinical Protocols; D003697:Delphi Technique; D019468:Disease Management; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy*; D017410:Practice Guidelines as Topic
D044942:Acyl-CoA Dehydrogenase, Long-Chain