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The mucopolysaccharidoses (MPS) are a group of disorders caused by the deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans or GAG). Accumulation of GAG in lysosomes interferes with normal functioning of cells, tissues, and organs, resulting in the clinical features observed in MPS disorders.
Sanfilippo syndrome (MPS type III) is an autosomal recessive MPS with 4 recognized types (A-D). Each type is caused by a deficiency in 1 of 4 enzymes involved in the degradation of heparan sulfate resulting in its lysosomal accumulation. Though biochemically different, the clinical presentation of all types is indistinguishable. Sanfilippo syndrome is characterized by severe central nervous system (CNS) degeneration, but other symptoms seen in MPS, such as coarse facial features and skeletal involvement, tend to be milder. Onset of clinical features usually occurs between 2 and 6 years in a child who previously appeared normal. The presenting symptoms are most commonly developmental delay and severe behavioral problems. Severe neurologic degeneration occurs in most patients by 6 to 10 years of age, accompanied by a rapid deterioration of social and adaptive skills. Death generally occurs by age 20, though individuals with an attenuated phenotype may have a longer life expectancy. Although there is no cure for Sanfilippo syndrome, research of therapies has included bone marrow transplantation, enzyme replacement, and gene replacement.
Sanfilippo syndrome type B is caused by mutations in NAGLU. Diagnostic testing of the coding region of this gene is available as a clinical assay (MP3BZ / Mucopolysaccharidosis IIIB, Full Gene Analysis).
Diagnosis of Sanfilippo syndrome, type B (mucopolysaccharidoses, type IIIB)
Deficiency of alpha-N-acetylglucosaminidase is diagnostic for Sanfilippo syndrome type B.
The preferred specimen type for diagnosing Sanfilippo syndrome type B is serum (ANAS / Alpha-N-Acetylglucosaminidase, Serum); however, if fibroblasts are readily available, ANAT / Alpha-N-Acetylglucosaminidase, Fibroblasts can also be used to diagnose this disorder.
This assay detects Sanfilippo syndrome type B only. The 3 other types of Sanfilippo syndrome (A, C, and D) must be ruled-out independently.
This assay will not identify carrier status for Sanfilippo syndrome type B.
Interfering factors include lack of viable cells, bacterial contamination, failure to transport tissue in an appropriate media, excessive transport time, and exposure of the specimen to temperature extremes (freezing or >30 degrees C).
> or =0.05 nmol/min/mg protein
1. Heron B, Mikaeloff Y, Froissart R, et al: Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kindgom and Greece. Am J Med Genet A 2011;155A(1):58-68
2. Neufeld EF, Muenzer J: The Mucopolysaccharidoses. In: The Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein B, et al: New York, NY: McGraw-Hill; 2014 Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62642135. Accessed May 04, 2015
3. Valstar MJ, Bruggenwirth HT, Olmer R, et al: Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 2010;33:759-767