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Table 1 Urine samples used for MALDI-TOF/TOF analysis of oligosaccharides randomly divided into a training set and a blind validation set

From: Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry

  Number of samples
Disease Enzyme deficiency Urinary oligosaccharide (OS) detected by TLC Training set Validation set Total of samples
Fucosidosis α-L-Fucosidase +++ (Fucosyl OS) 3 2 5
Aspartylglucosaminuria N-Aspartyl-β-glucosaminidase +++ (Glycoasparaginyl OS) 2 1 3
Sialidosis α-D-Neuraminidase +++ (Sialyl OS) 4 4 8
GM1 gangliosidosis β-D-galactosidase +++ (Galactosyl OS) 5 7 12
Sandhoff disease N-acetyl-β-D-hexasominidase A and B ± (GlcNAc OS) 4 2 6
α-mannosidosis α-D-mannosidase +++ (Mannosyl OS) 7 4 11
Mucolipidose type II N-Acetylglusaminyl 1-Phospho-transferase ND (Sialyl OS) 6 1 7
Mucolipidose type III N-Acetylglusaminyl 1-Phospho-transferase ND (Sialyl OS) 4 2 6
Unaffected (control) none ND 6 30 36
   Total 41 53 94
  1. Number of urine samples from patients unaffected or previously diagnosed to be affected with oligosaccharidose (TLC: Thin Layer Chromatography revealed using sulfuric orcinol, OS: oligosaccharides, GlcNAc: N-acetylglucosamine, +++: intensive spots, ±: weak spots, ND: not detectable).