Expert recommendations for the laboratory diagnosis of MPS VI

T. Wood, O. A. Bodamer, M. G. Burin, V. D'Almeida, M. Fietz, R. Giugliani, S. M. Hawley, C. J. Hendriksz, W. L. Hwu, D. Ketteridge, Z. Lukacs, N. J. Mendelsohn, N. Miller, M. Pasquali, A. Schenone, K. Schoonderwoerd, B. Winchester, P. Harmatz

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This enzyme is required for the degradation of dermatan sulfate. In its absence, dermatan sulfate accumulates in cells and is excreted in large quantities in urine. Specific therapeutic intervention is available; however, accurate and timely diagnosis is crucial for maximal benefit. To better understand the current practices for diagnosis and to establish diagnostic guidelines, an international MPS VI laboratory diagnostics scientific summit was held in February of 2011 in Miami, Florida.The various steps in the diagnosis of MPS VI were discussed including urinary glycosaminoglycan (uGAG) analysis, enzyme activity analysis, and molecular analysis. The following conclusions were reached. Dilute urine samples pose a significant problem for uGAG analysis and MPS VI patients can be missed by quantitative uGAG testing alone as dermatan sulfate may not always be excreted in large quantities. Enzyme activity analysis is universally acknowledged as a key component of diagnosis; however, several caveats must be considered and the appropriate use of reference enzymes is essential. Molecular analysis supports enzyme activity test results and is essential for carrier testing, subsequent genetic counseling, and prenatal testing.Overall the expert panel recommends caution in the use of uGAG screening alone to rule out or confirm the diagnosis of MPS VI and acknowledges enzyme activity analysis as a critical component of diagnosis. Measurement of another sulfatase enzyme to exclude multiple sulfatase deficiency was recommended prior to the initiation of therapy. When feasible, the use of molecular testing as part of the diagnosis is encouraged. A diagnostic algorithm for MPS VI is provided.

Original languageEnglish
Pages (from-to)73-82
Number of pages10
JournalMolecular Genetics and Metabolism
Volume106
Issue number1
DOIs
StatePublished - May 1 2012

Fingerprint

Mucopolysaccharidosis VI
Clinical Laboratory Techniques
Enzyme activity
Glycosaminoglycans
Dermatan Sulfate
Enzymes
N-Acetylgalactosamine-4-Sulfatase
Sulfatases
Testing
Multiple Sulfatase Deficiency Disease
Urine
Lysosomal Storage Diseases
Genetic Counseling
Screening
Guidelines
Degradation

Keywords

  • Algorithm
  • Arylsulfatase B
  • Diagnosis
  • Glycosaminoglycan
  • Maroteaux-Lamy syndrome
  • MPS VI

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Wood, T., Bodamer, O. A., Burin, M. G., D'Almeida, V., Fietz, M., Giugliani, R., ... Harmatz, P. (2012). Expert recommendations for the laboratory diagnosis of MPS VI. Molecular Genetics and Metabolism, 106(1), 73-82. https://doi.org/10.1016/j.ymgme.2012.02.005

Expert recommendations for the laboratory diagnosis of MPS VI. / Wood, T.; Bodamer, O. A.; Burin, M. G.; D'Almeida, V.; Fietz, M.; Giugliani, R.; Hawley, S. M.; Hendriksz, C. J.; Hwu, W. L.; Ketteridge, D.; Lukacs, Z.; Mendelsohn, N. J.; Miller, N.; Pasquali, M.; Schenone, A.; Schoonderwoerd, K.; Winchester, B.; Harmatz, P.

In: Molecular Genetics and Metabolism, Vol. 106, No. 1, 01.05.2012, p. 73-82.

Research output: Contribution to journalArticle

Wood, T, Bodamer, OA, Burin, MG, D'Almeida, V, Fietz, M, Giugliani, R, Hawley, SM, Hendriksz, CJ, Hwu, WL, Ketteridge, D, Lukacs, Z, Mendelsohn, NJ, Miller, N, Pasquali, M, Schenone, A, Schoonderwoerd, K, Winchester, B & Harmatz, P 2012, 'Expert recommendations for the laboratory diagnosis of MPS VI', Molecular Genetics and Metabolism, vol. 106, no. 1, pp. 73-82. https://doi.org/10.1016/j.ymgme.2012.02.005
Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R et al. Expert recommendations for the laboratory diagnosis of MPS VI. Molecular Genetics and Metabolism. 2012 May 1;106(1):73-82. https://doi.org/10.1016/j.ymgme.2012.02.005
Wood, T. ; Bodamer, O. A. ; Burin, M. G. ; D'Almeida, V. ; Fietz, M. ; Giugliani, R. ; Hawley, S. M. ; Hendriksz, C. J. ; Hwu, W. L. ; Ketteridge, D. ; Lukacs, Z. ; Mendelsohn, N. J. ; Miller, N. ; Pasquali, M. ; Schenone, A. ; Schoonderwoerd, K. ; Winchester, B. ; Harmatz, P. / Expert recommendations for the laboratory diagnosis of MPS VI. In: Molecular Genetics and Metabolism. 2012 ; Vol. 106, No. 1. pp. 73-82.
@article{33b2c574b94a432cb924ef9c104d766a,
title = "Expert recommendations for the laboratory diagnosis of MPS VI",
abstract = "Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This enzyme is required for the degradation of dermatan sulfate. In its absence, dermatan sulfate accumulates in cells and is excreted in large quantities in urine. Specific therapeutic intervention is available; however, accurate and timely diagnosis is crucial for maximal benefit. To better understand the current practices for diagnosis and to establish diagnostic guidelines, an international MPS VI laboratory diagnostics scientific summit was held in February of 2011 in Miami, Florida.The various steps in the diagnosis of MPS VI were discussed including urinary glycosaminoglycan (uGAG) analysis, enzyme activity analysis, and molecular analysis. The following conclusions were reached. Dilute urine samples pose a significant problem for uGAG analysis and MPS VI patients can be missed by quantitative uGAG testing alone as dermatan sulfate may not always be excreted in large quantities. Enzyme activity analysis is universally acknowledged as a key component of diagnosis; however, several caveats must be considered and the appropriate use of reference enzymes is essential. Molecular analysis supports enzyme activity test results and is essential for carrier testing, subsequent genetic counseling, and prenatal testing.Overall the expert panel recommends caution in the use of uGAG screening alone to rule out or confirm the diagnosis of MPS VI and acknowledges enzyme activity analysis as a critical component of diagnosis. Measurement of another sulfatase enzyme to exclude multiple sulfatase deficiency was recommended prior to the initiation of therapy. When feasible, the use of molecular testing as part of the diagnosis is encouraged. A diagnostic algorithm for MPS VI is provided.",
keywords = "Algorithm, Arylsulfatase B, Diagnosis, Glycosaminoglycan, Maroteaux-Lamy syndrome, MPS VI",
author = "T. Wood and Bodamer, {O. A.} and Burin, {M. G.} and V. D'Almeida and M. Fietz and R. Giugliani and Hawley, {S. M.} and Hendriksz, {C. J.} and Hwu, {W. L.} and D. Ketteridge and Z. Lukacs and Mendelsohn, {N. J.} and N. Miller and M. Pasquali and A. Schenone and K. Schoonderwoerd and B. Winchester and P. Harmatz",
year = "2012",
month = "5",
day = "1",
doi = "10.1016/j.ymgme.2012.02.005",
language = "English",
volume = "106",
pages = "73--82",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Expert recommendations for the laboratory diagnosis of MPS VI

AU - Wood, T.

AU - Bodamer, O. A.

AU - Burin, M. G.

AU - D'Almeida, V.

AU - Fietz, M.

AU - Giugliani, R.

AU - Hawley, S. M.

AU - Hendriksz, C. J.

AU - Hwu, W. L.

AU - Ketteridge, D.

AU - Lukacs, Z.

AU - Mendelsohn, N. J.

AU - Miller, N.

AU - Pasquali, M.

AU - Schenone, A.

AU - Schoonderwoerd, K.

AU - Winchester, B.

AU - Harmatz, P.

PY - 2012/5/1

Y1 - 2012/5/1

N2 - Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This enzyme is required for the degradation of dermatan sulfate. In its absence, dermatan sulfate accumulates in cells and is excreted in large quantities in urine. Specific therapeutic intervention is available; however, accurate and timely diagnosis is crucial for maximal benefit. To better understand the current practices for diagnosis and to establish diagnostic guidelines, an international MPS VI laboratory diagnostics scientific summit was held in February of 2011 in Miami, Florida.The various steps in the diagnosis of MPS VI were discussed including urinary glycosaminoglycan (uGAG) analysis, enzyme activity analysis, and molecular analysis. The following conclusions were reached. Dilute urine samples pose a significant problem for uGAG analysis and MPS VI patients can be missed by quantitative uGAG testing alone as dermatan sulfate may not always be excreted in large quantities. Enzyme activity analysis is universally acknowledged as a key component of diagnosis; however, several caveats must be considered and the appropriate use of reference enzymes is essential. Molecular analysis supports enzyme activity test results and is essential for carrier testing, subsequent genetic counseling, and prenatal testing.Overall the expert panel recommends caution in the use of uGAG screening alone to rule out or confirm the diagnosis of MPS VI and acknowledges enzyme activity analysis as a critical component of diagnosis. Measurement of another sulfatase enzyme to exclude multiple sulfatase deficiency was recommended prior to the initiation of therapy. When feasible, the use of molecular testing as part of the diagnosis is encouraged. A diagnostic algorithm for MPS VI is provided.

AB - Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This enzyme is required for the degradation of dermatan sulfate. In its absence, dermatan sulfate accumulates in cells and is excreted in large quantities in urine. Specific therapeutic intervention is available; however, accurate and timely diagnosis is crucial for maximal benefit. To better understand the current practices for diagnosis and to establish diagnostic guidelines, an international MPS VI laboratory diagnostics scientific summit was held in February of 2011 in Miami, Florida.The various steps in the diagnosis of MPS VI were discussed including urinary glycosaminoglycan (uGAG) analysis, enzyme activity analysis, and molecular analysis. The following conclusions were reached. Dilute urine samples pose a significant problem for uGAG analysis and MPS VI patients can be missed by quantitative uGAG testing alone as dermatan sulfate may not always be excreted in large quantities. Enzyme activity analysis is universally acknowledged as a key component of diagnosis; however, several caveats must be considered and the appropriate use of reference enzymes is essential. Molecular analysis supports enzyme activity test results and is essential for carrier testing, subsequent genetic counseling, and prenatal testing.Overall the expert panel recommends caution in the use of uGAG screening alone to rule out or confirm the diagnosis of MPS VI and acknowledges enzyme activity analysis as a critical component of diagnosis. Measurement of another sulfatase enzyme to exclude multiple sulfatase deficiency was recommended prior to the initiation of therapy. When feasible, the use of molecular testing as part of the diagnosis is encouraged. A diagnostic algorithm for MPS VI is provided.

KW - Algorithm

KW - Arylsulfatase B

KW - Diagnosis

KW - Glycosaminoglycan

KW - Maroteaux-Lamy syndrome

KW - MPS VI

UR - http://www.scopus.com/inward/record.url?scp=84860194402&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84860194402&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2012.02.005

DO - 10.1016/j.ymgme.2012.02.005

M3 - Article

C2 - 22405600

AN - SCOPUS:84860194402

VL - 106

SP - 73

EP - 82

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 1

ER -