Tay-Sachs Disease: Generalized Absence of a Beta-D- <i>N</i> -Acetylhexosaminidase Component

American Association for the Advancement of Science (AAAS) - Tập 165 Số 3894 - Trang 698-700 - 1969
Shintaro Okada1, John S. O’Brien1
1Department of Neurosciences, School of Medicine, University of California at San Diego, La Jolla 92037

Tóm tắt

Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D- N -acetylglucosaminidase and β-D- N -acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease.

Từ khóa


Tài liệu tham khảo

BRADY, R.O., SPHINGOLIPIDOSES, NEW ENGLAND JOURNAL OF MEDICINE 275: 312 (1966).

GATT, S, ISOLATION OF BETA-GALACTOSIDASE AND BETA-GLUCOSIDASE FROM BRAIN, BIOCHIMICA ET BIOPHYSICA ACTA 113: 567 (1966).

GONATAS, N.K., ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY 24: 318 (1965).

HAYASHI, M, HISTOCHEMICAL DEMONSTRATION OF N-ACETYL-BETA-GLUCOSAMINIDASE EMPLOYING NAPHTHOL AS-BI N-ACETYL-BETA-GLUCOSAMINIDE AS SUBSTRATE, JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY 13: 355 (1965).

10.1126/science.165.3893.611

JATZKEWITZ, H, \BIOCHIMICA ET BIOPHYSICA ACTA 70: 354 (1963).

KAMPINE, P.J., SCIENCE 155: 86 (1966).

LEABACK, D.H., STUDIES ON GLUCOSAMINIDASE .4. FLUORIMETRIC ASSAY OF N-ACETYL-BETA-GLUCOSAMINIDASE, BIOCHEMICAL JOURNAL 78: 151 (1961).

LEDEEN, R, BIOCHEMISTRY 4: 2225 (1965).

OBRIEN, J. S., AMERICAN JOURNAL OF DISEASES OF CHILDREN 109: 338 (1965).

10.1126/science.160.3831.1002

OKADA S UNPUBLISHED DATA.

ROBINSON, D, N-ACETYL-BETA-GLUCOSAMINIDASES IN HUMAN SPLEEN, BIOCHEMICAL JOURNAL 107: 321 (1968).

SANDHOFF, K, LIFE SCIENCES PART 1 PHYSIOLOGY AND PHARMACOLOGY AND PART 2 BIOCHEMISTRY GENERAL AND MOLECULAR BIOLOGY 7: 283 (1968).

SMITHIES, O, BIOCHEMICAL JOURNAL 71: 585 (1959).

SVENNERHOLM, L, CHEMICAL STRUCTURE OF NORMAL HUMAN BRAIN AND TAY-SACHS GANGLIOSIDES, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 9: 436 (1962).

SVENNERHOLM, L, GANGLIOSIDOSES, BIOCHEMICAL JOURNAL 111: P6 (1969).

Volk B. W. Tay-Sachs Disease (1964).

WALKER, P.G., STUDIES ON GLUCOSAMINIDASE .5. KIDNEY N-ACETYL-BETA-GLUCOSAMINIDASE AND N-ACETYL-BETA-GALACTOSAMINIDASE, BIOCHEMICAL JOURNAL 79: 288 (1961).

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Thông tin xuất bản

American Association for the Advancement of Science (AAAS)

Tập 165 Số 3894

698-700

Thông tin tác giả