1. The knowledge gained in our identification of the metabolic abnormality in the mutant strain of BALB/c mice as an inability to esterify exogenous cholesterol has been extended to a comprehensive investigation of patients with Type C Niemann-Pick disease. By far the majority of these indiviuals exhibit the profound deficiency of cholestrol esterification thus demonstrating the nature of the metabolic defect in this group of patients. This discovery paves the way for the development of test for genetic counseling and eventual therapy for this human disorder of metabolism. 2. Oher work hss centered on the use of non-metabolizable analogues of glucocerebroside to examine the intercellular disposition and gastrointestinal excretion of this lipid which accumulates in Gaucher's disease. The result obtained in these investigations will be used to develop strategies for the treatment of patients with this disorder in addition to enzyme replacement.
