Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency

DiscussionVLCAD deficiency can be identified by neonatal screening. Most patients compliant with therapy normalized biochemical parameters and had no major clinical manifestations. Complications were completely prevented with a relatively low number of pre-emptive ER visits or hospital admissions. It remains unclear whether neonatal screening is now identifying less severely affected patient or if complications will arise as subjects become older. Observation beyond puberty is necessary to fully understand the impact of VLCAD deficiency on morbidity in patients with VLCAD deficiency.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research