The discovery that mutations in genes involved in its biosynthetic pathway, PANK2 and COASY, or in its compartmentalization, SLC25A42 and SLC33A1, are associated with rare, inherited neurodegenerative or neurodevelopmental disorders gave a great impetus to studies aimed at understanding the pathophysiology of the diseases, with the development of several cellular and animal experimental models. The gene discussed is SLC25A42; the disease is neurodevelopmental disorder.