Disturbed lipid metabolism causes congenital disease
Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results in prenatal abnormalities, and in vitro studies defined the underlying pathophysiology. The study, to which CENTOGENE contributed significant genetic data, was published in the highly prestigious American Journal of Human Genetics.