05/01/1983 - "Ten patients with familial hyperlysinemia with lysine-ketoglutarate reductase deficiency, identified through newborn screening programs or family surveys, were selected for review. "
08/01/1969 - "Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency."
07/01/1976 - "In the present study, analysis of liver obtained at autopsy from a patient with familial hyperlysinemia confirmed the lysine-ketoglutarate reductase deficiency but, unexpectedly, also revealed an absence of saccharopine dehydrogenase (EC. "
05/01/1979 - "It is suggested that familial hyperlysinemia, type I, be applied to patients with major defects in lysine-ketoglutarate reductase and saccharopine dehydrogenase, and that familial hyperlysinemia, type II, to be used to designate patients in whom significant amounts of lysine-ketoglutarate reductase are retained. "
10/10/1984 - "Hyperlysinemia type I is associated with a combined deficiency in lysine-ketoglutarate reductase and saccharopine dehydrogenase activities, the first two sequential steps in the lysine degradative pathway. "