A METHOD FOR THE RAPID DETECTION OF URINARY GLYCOPEPTIDES IN ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY AND OTHER LYSOSOMAL STORAGE DISEASES

被引：19

作者：

SCHINDLER, D

KANZAKI, T

DESNICK, RJ

机构：

[1] CUNY MT SINAI SCH MED,DIV MED & MOLEC GENET,5TH AVE & 100TH ST,NEW YORK,NY 10029

[2] UNIV WURZBURG,DEPT HUMAN GENET,W-8700 WURZBURG,GERMANY

[3] NAGOYA CITY UNIV,SCH MED,DEPT DERMATOL,NAGOYA,AICHI 467,JAPAN

来源：

CLINICA CHIMICA ACTA | 1990年 / 190卷 / 1-2期

关键词：

Glycopeptide; Lysosomal disease; Oligosaccharide; Sialylglycopeptide; Thin layer chromatography;

D O I：

10.1016/0009-8981(90)90282-W

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

A new method is described for the detection of abnormal urinary oligosaccharide and glycopeptide excretion by thin layer chromatography and differential visualization of oligosaccharides and glycopeptides. This method permits rapid screening and identification of disorders characterized by oligosacchariduria and glycopeptiduria including α-N-acetylgalactosaminidase deficiency, angiokeratoma corporis diffusum with glycopeptiduria, aspartylglucosaminuria, galactosialidosis, fucosidosis, GM1 gangliosidosis and sialidoses 1 and 2. Of note, the characterization of the glycopeptide excretion profiles in patients with α-N-acetylgalactosaminidase deficiency and angiokeratoma corporis diffusum with glycopeptiduria revealed essentially identical patterns, indicating the metabolic relatedness of these two phenotypically distinct conditions. Use of this improved thin layer Chromatographic method should enhance routine screening of patients for lysosomal storage diseases as well as permit the identification of new disorders resulting from defective oligosaccharide and/or glycoprotein metabolism. © 1990.

引用

页码：81 / 92

页数：12

共 22 条

[1] THIN-LAYER CHROMATOGRAPHY OF OLIGOSACCHARIDES IN URINE AS A RAPID INDICATION FOR THE DIAGNOSIS OF LYSOSOMAL ACID MALTASE DEFICIENCY (POMPES DISEASE) [J].