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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mucopolysaccharidosis type IIIA


Other Names for this Disease
  • Mucopoly-saccharidosis type 3A
  • Sanfilippo syndrome A
  • Heparan sulfate sulfatase deficiency
  • MPS IIIA
  • MPS 3A
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is carrier testing available for relatives of people with mucopolysaccharidosis type IIIA?

While a diagnosis of mucopolysaccharidosis type IIIA (MPS IIIA) is typically confirmed by a biochemical genetic test called an enzyme assay, carrier testing with an enzyme assay is generally unreliable due to a wide variation in enzyme concentrations. If molecular genetic testing (which looks at the DNA) has been done on the affected family member and the mutation(s) have been identified, molecular genetic testing can then also be used to identify carriers among siblings or other relatives.[1]

If a carrier of MPS IIIA is concerned about having an affected child, his/her partner can be screened for the most common mutations known to cause the condition.[1] If no mutation is found in the partner, that person's risk to be a carrier would decrease significantly but would not be eliminated.

People interested in obtaining more specific information about genetic testing and/or carrier screening for MPS IIIA should speak with a genetics professional.
Last updated: 5/6/2014

References
  1. Emil Kakkis and Robert Wynn. Mucopolysaccharidoses: Clinical features and diagnosis. UpToDate. Waltham, MA: UpToDate; May, 2014; Accessed 5/7/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Mucopoly-saccharidosis type 3A
  • Sanfilippo syndrome A
  • Heparan sulfate sulfatase deficiency
  • MPS IIIA
  • MPS 3A
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.