title: Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members.
abstract: Nine lysosomal enzyme activities were examined in granulocytes and lymphocytes from two unrelated patients with Chediak-Higashi syndrome (CHS) in "accelerated phase" and from their family members. In CHS granulocytes, there was a marked reduction of alpha-mannosidase (E.C. 3.2.1.24), alpha-galactosidase (E.C. 3.2.1.22), and alpha-fucosidase (E.C. 3.2.1.51) activities, which were below 21, 24, and 43% of mean control values, respectively. In CHS lymphocytes, beta-glucuronidase (E.C. 3.2.1.31) and alpha-mannosidase activities were also decreased. In granulocytes of family members, the activities of acid phosphatase (E.C. 3.1.3.2), N-acetyl-beta-glucosaminidase (E.C. 3.2.1.30), aryl sulphatase (E.C. 3.1.6.1), and beta-glucuronidase were significantly higher than the control values (P < 0.001), which were 262, 218, 414, and 180% of mean control values. Neither the inhibitor in CHS granulocytes nor the activator in the heterozygous granulocytes to those enzymes could be found by mixing experiments with normal ones.
mesh_terms: D000118:Acetylglucosaminidase / Q000378:metabolism; D000135:Acid Phosphatase / Q000378:metabolism; D001192:Arylsulfatases / Q000378:metabolism; D002609:Chediak-Higashi Syndrome / Q000201:enzymology* / Q000235:genetics; D002675:Child, Preschool; D000795:Fabry Disease; D005260:Female; D005966:Glucuronidase / Q000378:metabolism; D006098:Granulocytes / Q000201:enzymology*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008361:Mannosidases / Q000172:deficiency; D005644:alpha-L-Fucosidase / Q000172:deficiency
chemical_list: D000135:Acid Phosphatase; D001192:Arylsulfatases; D008361:Mannosidases; D005966:Glucuronidase; D005644:alpha-L-Fucosidase; D000118:Acetylglucosaminidase