These included all patients with leukoencephalopathy, progressive, with ovarian failure (LKENP, n = 2), Fabry disease (n = 1), early infantile epileptic encephalopathy 34 (EIEE34, n = 1), and carbamoyl phosphate synthetase I deficiency (CPS 1 deficiency, n = 1). The gene discussed is CPS1; the disease is Fabry disease.