A method for the rapid detection of urinary glycopeptides in α-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases

Detlev Schindler, Tamotsu Kanzaki, Robert J. Desnick

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)81-91
Number of pages11
JournalClinica Chimica Acta
Volume190
Issue number1-2
DOIs
StatePublished - Sep 1990

Keywords

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

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