The biochemical defect in Farber's disease.

Abstract

In 1967 Prensky et al. reported the accumulation of ceramide in the postmortem tissues of a patient with Faber’s disease (1), and in 1971 Samuelsson and Zetterstrom reported such an accumulation in a second case (2). In 1972 Sugita, Dulaney and Moser demonstrated the deficient activity of an acid ceramidase in the tissues of the case reported by Prensky et al., (3). Since this same enzymatic defect has now been demonstrated in three additional unrelated patients, it appears likely that the deficient activity of acid ceramidase represents the basic defect in this disease, and makes it appropriate to appraise our current knowledge about this striking rare disorder.