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Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA.
Lawrence, Roger; Prill, Heather; Vachali, Preejith P; Adintori, Evan G; de Hart, Greg; Wang, Raymond Y; Burton, Barbara K; Pasquali, Marzia; Crawford, Brett E.
Affiliation
  • Lawrence R; Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA.
  • Prill H; Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA.
  • Vachali PP; ARUP Institute for Clinical and Experimental Pathology®, 500 Chipeta Way, Salt Lake City, UT 84108, USA.
  • Adintori EG; Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA.
  • de Hart G; Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA.
  • Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County, 1201 W. La Veta Ave., Orange, CA 92868, USA.
  • Burton BK; Ann & Robert Lurie Children's Hospital, 225 E. Chicago Ave., Chicago, IL 60611, USA, and.
  • Pasquali M; ARUP Institute for Clinical and Experimental Pathology®, 500 Chipeta Way, Salt Lake City, UT 84108, USA.
  • Crawford BE; University of Utah and ARUP Laboratories, Salt Lake City, UT 84108, USA.
Glycobiology ; 30(7): 433-445, 2020 07 20.
Article in En | MEDLINE | ID: mdl-31897472
ABSTRACT
Morquio syndrome type A, also known as MPS IVA, is a rare autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase, a lysosomal hydrolase critical in the degradation of keratan sulfate (KS) and chondroitin sulfate (CS). The CS that accumulates in MPS IVA patients has a disease-specific nonreducing end (NRE) terminating with N-acetyl-D-galactosamine 6-sulfate, which can be specifically quantified after enzymatic depolymerization of CS polysaccharide chains. The abundance of N-acetyl-D-galactosamine 6-sulfate over other possible NRE structures is diagnostic for MPS IVA. Here, we describe an assay for the liberation and measurement of N-acetyl-D-galactosamine 6-sulfate and explore its application to MPS IVA patient samples in pilot studies examining disease detection, effects of age and treatment with enzyme-replacement therapy. This assay complements the existing urinary KS assay by quantifying CS-derived substrates, which represent a distinct biochemical aspect of MPS IVA. A more complete understanding of the disease could help to more definitively detect disease across age ranges and more completely measure the pharmacodynamic efficacy of therapies. Larger studies will be needed to clarify the potential value of this CS-derived substrate to manage disease in MPS IVA patients.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chondroitin Sulfates / Mucopolysaccharidosis IV Limits: Adult / Child / Humans Language: En Journal: Glycobiology Journal subject: BIOQUIMICA Year: 2020 Document type: Article Affiliation country: Estados Unidos

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chondroitin Sulfates / Mucopolysaccharidosis IV Limits: Adult / Child / Humans Language: En Journal: Glycobiology Journal subject: BIOQUIMICA Year: 2020 Document type: Article Affiliation country: Estados Unidos