Consisting of metabolic geneticists, an epidemiologist, and newborn screening program and laboratory staff, this twelve member work group studied data collected from newborn screening for children who were screen positive for very long chain acyl-CoA dehydrogenase deficiency (VLCADD).
The overall goal of this collaborative project was to examine the relationship between clinical presentation and treatment response. More specifically, the work group examined the correlations between treatments that were initiated, genotype, metabolite profile, and clinical phenotype in infants who screened positive and/or were identified with VLCADD through newborn screening. It is hoped that information gathered from the analysis of the compiled newborn screening data, from all of the partner states, will help lead to the development of more effective evidence-based treatment standards for VLCADD.
Work completed by this group has resulted in a publication in Molecular Genetics and Metabolism (see below for a link to the abstract). A second article may be considered.
Collaborative Lead: Lawrence Merritt
Staff Lead: Jennifer Boomsma