ACID-HYDROLASES IN LEUKOCYTES AND PLATELETS OF NORMAL SUBJECTS AND IN PATIENTS WITH GAUCHERS AND FABRYS-DISEASE

被引：96

作者：

BEUTLER, E ^{[1
]}

KUHL, W ^{[1
]}

MATSUMOTO, F ^{[1
]}

PANGALIS, G ^{[1
]}

机构：

[1] CITY HOPE MED CTR, DEPT HEMATOL, DUARTE, CA 91010 USA

来源：

JOURNAL OF EXPERIMENTAL MEDICINE | 1976年 / 143卷 / 04期

关键词：

D O I：

10.1084/jem.143.4.975

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Lymphocytes, monocytes, neutrophilic granulocytes and platelets were each separated to > 95% purity from 6 normal subjects, 3 patients with Gaucher''s disease, 2 heterozygotes for Gaucher''s disease and 1 patient with Fabry''s disease. Activities of the following acid hydrolases were determined: acid (pH 4.0) .beta.-glucosidase, pH 5.0 .beta.-glucosidase, .alpha.-galactosidase, .alpha.-arabinosidase, .alpha.-mannosidase, .alpha.-glucosidase, .beta.-glucuronidase, .beta.-galactosidase, .beta.-hexosaminidase and acid phosphatase. Enzymatic activity varied greatly with cell type and the enzyme being measured; the importance of assaying pure preparations especially for heterozygote detection is emphasized. Gaucher''s disease patients'' cells were deficient in the pH 4.0 acid .beta.-glucosidase, variable in the pH 5.0 .beta.-glucosidase and normal in all other acid hydrolases tested, including acid phosphatase, whose activity is elevated in plasma. Blood cells of a patient with Farbry''s disease were deficient in .alpha.-galactosidase and normal in all other acid hydrolases tested.

引用

页码：975 / 980

页数：6

共 12 条

[1]

[Anonymous], 1965, HISTOPATHOLOGIC TECH

[2]

BEUTLER E, 1970, J LAB CLIN MED, V76, P747

[3]

BEUTLER E, 1970, LANCET, V1, P612

[4] GLUCOCEREBROSIDASE - STOICHIOMETRY OF ASSOCIATION BETWEEN EFFECTOR AND CATALYTIC PROTEINS [J].

HO, MW ;

RIGBY, M .

BIOCHIMICA ET BIOPHYSICA ACTA, 1975, 397 (01) :267-273

[5]

HO MW, 1972, AM J HUM GENET, V24, P37

[6] DIAGNOSIS OF GAUCHERS DISEASE AND NIEMANN-PICK DISEASE WITH SMALL SAMPLES OF VENOUS BLOOD [J].

KAMPINE, JP ;

BRADY, RO ;

KANFER, JN ;

FELD, M ;

SHAPIRO, D .

SCIENCE, 1967, 155 (3758) :86-&

[7]

KINT J A, 1970, Science (Washington D C), V167, P1268, DOI 10.1126/science.167.3922.1268

[8]

KLIBANSKY C, 1974, EUR J CLIN INVEST, V4, P101, DOI 10.1111/j.1365-2362.1974.tb02321.x

[9]

LOSMAN MJ, 1974, S AFR MED J, V48, P1150

[10]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

← 1 2 →