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Screening for selected oligosaccharidosis
Oligosaccharidoses are characterized by the abnormal accumulation of incompletely degraded oligosaccharides in cells and tissues and the corresponding increase of related free oligosaccharides in the urine.
Clinical features of oligosaccharidoses often overlap; therefore, urine screening is an important tool in the initial workup for these disorders.
Enzyme or molecular analysis is required to make a definitive diagnosis.
Oligosaccharide analysis may be considered in the workup of unexplained refractory epilepsy. For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instructions.
Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)