Expert recommendations for the laboratory diagnosis of MPS VI.
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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, Zoltan; Mendelsohn, N J; Miller, N; Pasquali, M; Schenone, A; Schoonderwoerd, K; Winchester, B; Harmatz, P.
In: MOL GENET METAB, Vol. 106, No. 1, 1, 2012, p. 73-82.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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, Zoltan
AU - Mendelsohn, N J
AU - Miller, N
AU - Pasquali, M
AU - Schenone, A
AU - Schoonderwoerd, K
AU - Winchester, B
AU - Harmatz, P
PY - 2012
Y1 - 2012
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 - Humans
KW - Cerebroside-Sulfatase/blood/urine
KW - Dried Blood Spot Testing
KW - Glycosaminoglycans/urine
KW - Mucopolysaccharidosis VI/diagnosis/enzymology
KW - N-Acetylgalactosamine-4-Sulfatase/blood/genetics/urine
KW - Humans
KW - Cerebroside-Sulfatase/blood/urine
KW - Dried Blood Spot Testing
KW - Glycosaminoglycans/urine
KW - Mucopolysaccharidosis VI/diagnosis/enzymology
KW - N-Acetylgalactosamine-4-Sulfatase/blood/genetics/urine
M3 - SCORING: Journal article
VL - 106
SP - 73
EP - 82
JO - MOL GENET METAB
JF - MOL GENET METAB
SN - 1096-7192
IS - 1
M1 - 1
ER -