title: Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.
abstract: BACKGROUND
  Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typically results in the abnormal accumulation of uncompletely degraded oligosaccharides in the urine. Since the clinical features of many of these disorders are not specific for a single enzyme deficiency, unambiguous screening is critical to limit the number of costly enzyme assays which otherwise must be performed.
  
  
  METHODS
  Here we provide evidence for the advantages of using a MALDI-TOF/TOF (matrix-assisted laser desorption ionization time-of-flight) mass spectrometric (MS) method for screening oligosaccharidoses. Urine samples from previously diagnosed patients or from unaffected subjects were randomly divided into a training set and a blind testing set. Samples were directly analyzed without prior treatment.
  
  
  RESULTS
  The characteristic MS and MS/MS molecular profiles obtained allowed us to identify fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, Sandhoff disease, α-mannosidosis, sialidosis and mucolipidoses type II and III.
  
  
  CONCLUSIONS
  This method, which is easily run in less than 30 minutes, is performed in a single step, and is sensitive and specific. Invaluable for clinical chemistry purposes this MALDI-TOF/TOF mass spectrometry procedure is semi-automatizable and suitable for the urinary screening of oligosacharidoses.
authors: Laurent
authors: L
authors: Bonesso
authors: Monique
authors: M
authors: Piraud
authors: Céline
authors: C
authors: Caruba
authors: Emmanuel
authors: E
authors: Van Obberghen
authors: Raymond
authors: R
authors: Mengual
authors: Biochemistry Laboratory, University Hospital, Nice, France. hinault@unice.fr.
authors: Charlotte
authors: C
authors: Hinault
mesh_terms: D005260:Female; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000378:metabolism*; D008297:Male; D009844:Oligosaccharides / Q000378:metabolism*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D009844:Oligosaccharides