Diagnosing lysosomal storage disorders: Mucopolysaccharidosis type II

Britt A. Johnson, Otto P. van Diggelen, Angela Dajnoki, Olaf A. Bodamer

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder caused by a deficiency of iduronate 2-sulfatase (IDS). Progressive, intralysosomal accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in almost all tissues leads to multi-organ involvement in affected males but to virtual absence of symptoms in heterozygote female carriers due to preferential inactivation of the mutant allele. Diagnosis of MPS II in males is based on IDS analysis in leukocytes, fibroblasts, plasma, or dried blood spots (DBS), whereas IDS activities may be within the normal range in heterozygote females. The advent of fluorometric and mass spectrometry methods for enzyme analysis in DBS has simplified the diagnostic approach forMPS II males. Molecular analysis of the IDS gene confirms the diagnosis of MPS II in males and is the only diagnostic test to confirm carrier status in females. This unit provides detailed analytical protocols for measurement of IDS activity in DBS and plasma using a fluorometric assay.

Original languageEnglish
Article number17.14
JournalCurrent Protocols in Human Genetics
Issue numberSUPPL.79
DOIs
StatePublished - Jan 1 2013

Fingerprint

Iduronate Sulfatase
Mucopolysaccharidosis II
Heterozygote
Dried Blood Spot Testing
Mucopolysaccharidosis I
Dermatan Sulfate
Heparitin Sulfate
Glycosaminoglycans
Routine Diagnostic Tests
Mass Spectrometry
Reference Values
Leukocytes
Fibroblasts
Alleles
Enzymes
Genes

Keywords

  • Alpha-iduronate-2-sulfatase
  • Dried blood spot
  • Fluorometry
  • Glycosaminoglycans
  • Hunter syndrome
  • MPS II
  • Mucopolysaccharide
  • Mucopolysaccharidosis type II

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Johnson, B. A., van Diggelen, O. P., Dajnoki, A., & Bodamer, O. A. (2013). Diagnosing lysosomal storage disorders: Mucopolysaccharidosis type II. Current Protocols in Human Genetics, (SUPPL.79), [17.14]. https://doi.org/10.1002/0471142905.hg1714s79

Diagnosing lysosomal storage disorders : Mucopolysaccharidosis type II. / Johnson, Britt A.; van Diggelen, Otto P.; Dajnoki, Angela; Bodamer, Olaf A.

In: Current Protocols in Human Genetics, No. SUPPL.79, 17.14, 01.01.2013.

Research output: Contribution to journalArticle

Johnson, Britt A. ; van Diggelen, Otto P. ; Dajnoki, Angela ; Bodamer, Olaf A. / Diagnosing lysosomal storage disorders : Mucopolysaccharidosis type II. In: Current Protocols in Human Genetics. 2013 ; No. SUPPL.79.
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