TY - JOUR
T1 - A method for the rapid detection of urinary glycopeptides in α-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases
AU - Schindler, Detlev
AU - Kanzaki, Tamotsu
AU - Desnick, Robert J.
N1 - Funding Information:
This work was supported in part by a grant (l-578) from the March of Dimes Birth Defects Foundation, a grant (5 ROl DK 34045) from the National Institute of Health and a grant for the General Clinical Research Center (RR-71) from the Division of Research Resources, National Institutes of Health.
PY - 1990/9
Y1 - 1990/9
N2 - 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.
AB - 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.
KW - Glycopeptide
KW - Lysosomal disease
KW - Oligosaccharide
KW - Sialylglycopeptide
KW - Thin layer chromatography
UR - http://www.scopus.com/inward/record.url?scp=0025284618&partnerID=8YFLogxK
U2 - 10.1016/0009-8981(90)90282-W
DO - 10.1016/0009-8981(90)90282-W
M3 - Article
C2 - 2208741
AN - SCOPUS:0025284618
VL - 190
SP - 81
EP - 91
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
IS - 1-2
ER -