The mutational spectrum in very long‐chain acyl‐CoA dehydrogenase deficiency

Conclusion We have shown that all of seven unrelated patients with defective palmitoyl‐CoA dehydrogenation have mutations in VLCAD, indicating that they suffer from VLCAD deficiency. Our study illustrations that there is a large mutational heterogeneity in VLCAD deficiency. It is not at present possible to judge whether or to what extent this large mutational heterogeneity may explain the varying clinical picture observed in this disease.