[Lysosomal hydrolase activity of the plasma and leukocytes of homo- and heterozygotes with various types of I-cell disease].
One patient with I-cell disease and three patients with pseudo Hurler polydystrophy as well as their relatives were examined. Activity of acid hydrolases was distinctly elevated in blood plasma of all the patients studied, while in leukocyte extracts it was within the normal limits. The ratio of hexosaminidase A was distinctly decreased in blood plasma of the patient with I-cell disease and of her mother. "Low activity" variant of blood plasma alpha-fucosidase was detected in one patient with pseudo Hurler polydystrophy and in his father. The ratio of bound sialic acids in supernatant and in individual leukocyte fractions was about I in all the patients examined as compared with 0.3-0.5 value in healthy persons. The data obtained suggest an excessive storage of soluble sialyl-containing derivatives in leukocytes of the patients with different variants of I-cell disease.
N B
NB
Gusina
G L
GL
Tsukerman
D002648:Child; D002675:Child, Preschool; D006025:Glycosaminoglycans / Q000652:urine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006867:Hydrolases / Q000097:blood* / Q000172:deficiency; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology*; D009081:Mucolipidoses / Q000201:enzymology* / Q000235:genetics; D012794:Sialic Acids / Q000097:blood
D006025:Glycosaminoglycans; D012794:Sialic Acids; D006867:Hydrolases
Aktivnosti lizosomnykh gidrolaz plazmy i leĭkotsitov u gomo- i geterozigot s razlichnymi variantami I-kletochnoĭ bolezni.