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What might be done with the cases that are not diagnosed prenatally? The main concern at present is to try to replace the missing enzyme. This is quite a complicated process. We have purified hexosamini dase A to homogeneity from human urine and expect to undertake enzyme infusion studies, with appropriate precautions, into Tay-Sachs patients. We do not know how effective such replacement therapy will be b e cause of the uncertainty that the enzyme can pass across the blood brain barrier. If it does not reach the brain, other procedures will have to be consid ered (cf.
B R A D Y 0 Fig. 32. 2 4 6 8 10 12 DISTANCE (cm) 14 16 Ganglioside labelling pattern of hepatocytes and Morris hepatoma Η 4123 using N-acetyl% - D - m a n n o s a m i n e as precursor in tissue cullure. Acknowledgments Figure 3 is reproduced from Lipids and Lipido ses , G. , 1967, page 318. B. B. S. Fredrickson, editors, Second Edition, McGraw-Hill Book Company, New York, 1966, page 567. Figure 13 from the same source, page 593 and Figure 1 8 , page 621. D. Terry and M. Weiss: Studies in Tay-Sachs Disease.
What practical use can we make of this informa tion? In all of these diseases there are two very important clinical aspects which can now be elucida ted. The first is the detection of carriers of these diseases. Heterozygote detection is somewhat tenuous because there is only a partial deficiency of the en zyme involved, and probably only a few types of cells, such as leukocytes and cultured fibroblasts are suit able for such tests. We have frequently used soni cated fresh white blood cell preparations (Table 12 and 13) and extracts of cultured skin fibroblasts for the identification of carriers ( 4 ) .
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