Abstract
Summary: 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 α-mannosidase (E.C. 3.2.1.24), α-galactosidase (E.C. 3.2.1.22), and α-fucosidase (E.C. 3.2.1.51) activities, which were below 21, 24, and 43% of mean control values, respectively. In CHS lymphocytes, β-glucuronidase (E.C. 3.2.1.31) and α-mannosidase activities were also decreased.
In granulocytes of family members, the activities of acid phosphatase (E.C. 3.1.3.2), N-acetyl-β-glucosaminidase (E.C. 3.2.1.30), aryl sulphatase (E.C. 3.1.6.1), and β-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.
Speculation: These findings suggest that some acid hydrolase-deficient state in CHS granulocytes might account for their functional abnormality and that CHS heterozygotes could be detected by the altered enzyme levels in their granulocytes.
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Tanaka, T. Chediak-Higashi Syndrome: Abnormal Lysosomal Enzyme Levels in Granulocytes of Patients and Family Members. Pediatr Res 14, 901–904 (1980). https://doi.org/10.1203/00006450-198008000-00001
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DOI: https://doi.org/10.1203/00006450-198008000-00001
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