Laboratory studies, to be described presently, were performed on cerebrospinal fluid and blood of patients with infantile and juvenile amaurotic family idiocy.
Lipase Studies on Cerebrospinal Fluid
Much care was taken to improve Cherry and Crandell's method of lipase determination22 through purification of the olive oil, use of penicillin to prevent bacterial growth and standardization by means of comparison with the effects of commercial lipases. Table 1 summarizes our results indicating that the lipase content in Tay-Sachs' disease is essentially the same as in a number of other neurological disorders. It is evident that further studies will have to be directed to other enzyme systems in an attempt to detect some of the basic biochemical disturbances underlying this disease.
Serum Protein Studies
Paper electrophoresis for protein fractionation of the serum has been used by Saifer, Aronson, Zymaris and Volk in 7 cases of Tay-Sachs' disease.21 Our comparable studies
SPIEGEL-ADOLF M, BAIRD HW, KOLLIAS D, SZEKELY EG. Cerebrospinal Fluid, Serum, and Blood Investigations in Amaurotic Family Idiocy. AMA Am J Dis Child. 1959;97(5_PART_II):676–683. doi:10.1001/archpedi.1959.02070010678005