Nadler and Egan (1970) reported 5 children of first-cousin parents with a disorder characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Essentially no acid phosphatase could be detected in lysates of cultured ... Nadler and Egan (1970) reported 5 children of first-cousin parents with a disorder characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Essentially no acid phosphatase could be detected in lysates of cultured fibroblasts. Prenatal diagnosis was made in another pregnancy in this family. Differences from the cells of the patients with lysosomal acid phosphatase deficiency could be shown (Nadler, 1972). In this 'total' acid phosphatase deficiency no increase in acid phosphatase occurred on exposure to prednisolone or to normal cells. Such an increase did occur with lysosomal acid phosphatase deficiency; treatment of 3 patients with prednisolone caused a rise of acid phosphatase to 70% of normal within 24 hours (Nadler, 1973). In a third form of the disease observed in a large number of related persons in Turkey, acid phosphatase was deficient in the serum and white cells but not in cultivated fibroblasts (Ozand, 1971). The clinical features included recurrent infections. Nadler (1978) stated that no further work on this disease had been done. Fibroblasts were no longer available because of a 'freezer accident'--a strong indication of the importance of the Genetic Cell Line Repository at Camden, N.J. Nadler (1982) was not aware of additional cases. Many doubt the existence of this disorder (Suzuki, 1987). It may be significant that after many years no further cases have been reported.