Issues

Homocystinuria is a rare disease caused by mutations in the CBS gene that results in a deficiency of cystathionine β-synthase (CBS). In this issue Al-Sadeq and colleagues (pp. 569–585) present the clinical and biochemical characterization of two novel CBS missense mutations that do not respond to pyridoxine treatment. The cover image shows superimposed MD structures for CBS^WT (green ribbons), CBS^K72I (blue ribbons) and CBS^L230Q (red ribbons). The image is courtesy of Michail Nomikos.