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The developmental patterns of four lysosomal enzymes have been investigated in liver, kidney, lung, heart, spleen, muscle and brain tissues of human fetuses at various gestational ages. The largest increment in the activity of all four enzymes, namely acid α-glucosidase, α-galactosidase, β-galactosidase and acid phosphatase has been observed in kidney with a 6- to 12-fold increase between the second and third trimester of gestation. The activity of all liver and spleen enzymes also increased considerably during these periods. In muscle, however, only α-glucosidase and acid phosphatase showed an increase in the activity, and in lung, acid phosphatase and β-galactosidase. Most of brain and heart enzymes, except acid phosphatase, did not change significantly during the observation period. The activities of these lysosomal enzymes were also measured in tissues of a normal adult individual, and aspects of the neonatal and postnatal development of these enzymes were discussed.

EC' 2.4.2.8) leading to increased production of uric acid (25). In erythrocyte hemolysates from patients with the Leach-Nyhan Activities of phosphoribosyltransferase for hyposanthine and syndrome. phosphor,bosyltrans~erase for hypoxanthine and guaadenine were investigated in erythrocytes and human tissues of nine is absent. whereas [hat for is increased (25). fetuses and adults a s well as in cultivated fibroblasts and amniotic p,lthough [he H G~R T~~~ in hemolysates of fluid cell\. Kinetic characteristics of these enzymes were also nl;,n4. heterozygotes is not distinguishable from that of studied in patients with the Lesch-Nyhan syndrome and with (1 1. 20) in their fibroblast cultures, two clonal populations partial deficiency for hyposanthine phosphoribosyltransferase are reported to be present (1 8. 19. 22. 24). one normal (II<;PRTase). and their obligate heterozygotes. The affinity of H~; P R T~~~ and the other no activity, partial defi-t1(;PR.I'ase for both substrates in partial deficiency decreased to ciency of H (;~R T~~~ was reported in a number of patients 13 to 20% of normal and by a less degree in its heterozygotes (9