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Article
May 1959

Cerebrospinal Fluid, Serum, and Blood Investigations in Amaurotic Family Idiocy

Author Affiliations

From the Departments of Colloid Chemistry and Pediatrics, Temple University School of Medicine and the St. Christopher's Hospital for Children, Philadelphia.

AMA Am J Dis Child. 1959;97(5_PART_II):676-683. doi:10.1001/archpedi.1959.02070010678005
Abstract

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

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