Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Journal: Molecular genetics and metabolism
PMID: 28065440

Abstract

UNLABELLED: Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tandem mass spectrometry (MS/MS) have been established to measure GAGs in serum or plasma from MPS and ML patients, but few studies were performed to determine whether these assays are sufficiently robust to measure GAG levels in dried blood spots (DBS) of patients with MPS and ML.

Authors

  • Francyne Kubaski
    Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United States; INAGEMP, Porto Alegre, Brazil.
  • Yasuyuki Suzuki
    Medical Education Development Center, Gifu University, Japan.
  • Kenji Orii
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Roberto Giugliani
    INAGEMP, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; Department of Genetics, UFRGS, Porto Alegre, Brazil.
  • Heather J Church
    Willink Biochemical Genetics Unit, Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust St Mary's Hospital, Manchester, UK.
  • Robert W Mason
    Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United States.
  • Vũ Chí Dũng
    Vietnam National Children's Hospital, Department of Medical Genetics, Metabolism & Endocrinology, Hanoi, Vietnam.
  • Can Thi Bich Ngoc
    Vietnam National Children's Hospital, Department of Medical Genetics, Metabolism & Endocrinology, Hanoi, Vietnam.
  • Seiji Yamaguchi
    Department of Pediatrics, Shimane University, Shimane, Japan.
  • Hironori Kobayashi
    Department of Pediatrics, Shimane University, Shimane, Japan.
  • Katta M Girisha
    Department of Medical Genetics, Kasturba Medical College Manipal, Manipal University, India.
  • Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Tadao Orii
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Shunji Tomatsu
    Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address: stomatsu@nemours.org.

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