Patent ID: 8592140

Claim:
A process for diagnosing the presence, identity, and/or severity of abnormal glycosaminoglycan biosynthesis, accumulation, and/or degradation in an individual, or a disorder thereof, the process comprising the steps of: a) generating a biomarker in a biological sample from the individual by treating a population of glycosaminoglycans, in or isolated from the biological sample with at least one digesting glycosaminoglycan lyase; b) selecting one or more non-reducing end saturated oligosaccharides as a biomarker, wherein prior to lyase treatment, the biomarker is not present in abundance in samples from individuals with abnormal glycosaminoglycan biosynthesis, accumulation, and/or degradation relative to normal individuals; and c) using an analytical instrument to measure the amount of the biomarker produced and displaying or recording a measure of a population of the biomarker; wherein the measure of the amount of the biomarker is utilized to determine the presence, identity, and/or severity of the disorder associated with abnormal glycosaminoglycan biosynthesis, accumulation, and/or degradation; wherein the process is a process for diagnosing the presence, identity, and/or severity of an abnormal glycosaminoglycan accumulation disorder, which disorder is a lysosomal storage disorder or is a disorder associated with amyloidosis; wherein when the lysosomal storage disorder is a MPS I, MPS IIIA, MPS IIIB, MPS IIID, MPS IVA, MPS IVB, MPS VI, MPS VII, or MPS IX disorder; and wherein the MPS IIIA biomarker is a saturated trisaccharide; the MPS IIIB biomarker is a saturated trisaccharide; the MPS I biomarker is saturated IdoA-GlcNS(± 6 S); and the biomarker for MPS IIID is selected from the biomarker for MPS VII is selected from the biomarker for MPS IVA is selected from the biomarker for MPS IVB is selected from the biomarker for MPS VIA is selected from and the biomarker for MPS VII is selected from