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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Figure 2

Diagnostic algorithm for mucopolysaccharidosis type II (MPS II). The 'gold standard' for the diagnosis of MPS II in a male proband is demonstration of deficiency of iduronate-2-sulfatase enzyme activity in leukocytes, fibroblasts, or plasma. Measurement of iduronate-2-sulfatase activity in dry blood spots also represents a valuable method for diagnosis, as no heparin is needed and very little blood is required. GAGs = glycosaminoglycans. IDS = iduronate-2-sulfatase gene. LSD = lysosomal storage disease. MPS = mucopolysaccharidosis. MSD = multiple sulfatase deficiency.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172