Chemical Diagnosis of Fabry's Disease by Fluorometric Assay and Fast Atom Bombardment/Mass Spectrometry-Reference-Cited by-同舟云学术

Chemical Diagnosis of Fabry's Disease by Fluorometric Assay and Fast Atom Bombardment/Mass Spectrometry

Published:1991-07 Issue:4 Volume:28 Page:368-372
ISSN:0004-5632
Container-title:Annals of Clinical Biochemistry: International Journal of Laboratory Medicine
language:en
Short-container-title:Ann Clin Biochem

Author:

Nakanishi Toyofumi,Funahashi Shuji,Funai Tatsuhiko¹,Hashimoto Takenori¹,Shimizu Akira²

Affiliation:

1. Department of Dermatology, Osaka National Hospital, Osaka

2. Osaka Medical Center and Research Institute for Maternal and Child Health, Murodo-cho, 840, Izumi-city, Osaka 590-02, Japan

Abstract

We report the results of a fluorometric assay for α-galactosidase A (EC.3.2.1.22) in plasma and leukocytes, and fast atom bombardment/mass spectrometry (FAB/MS) analysis of glycosphingolipids in urine sediments from a patient with Fabry's disease. In plasma, this patient had only 5 · 0% of the normal amount of α-galactosidase A, and his brother and mother had 11 · 0% and 25 · 0%, respectively. In leukocytes, the activities were below 8 · 0%. Glycosphingolipids from urine sediments were partially purified using a Sep-Pack C18 cartridge. The chemical diagnosis of Fabry's disease can be made more rapidly and accurately using fluorometric and FAB/MS analyses.

Publisher

SAGE Publications

Subject

Clinical Biochemistry,General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/000456329102800410

Reference15 articles.

1. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)

2. Enzymatic Defect in Fabry's Disease

3. Fabry's Disease: Alpha-Galactosidase Deficiency

4. A method for the quantitative determination of neutral glycosphingolipids in urine sediment

5. Biochemical and Genetic Studies in Two Families With Fabry Disease

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