mucopolysaccharidosis type 3A

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Print

Disease Overview

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.


Synonyms

  • MPS 3A
  • MPS III A
  • MPS IIIA
  • MPS3A
  • MPSIIIA
  • Sanfilippo A
  • Sanfilippo syndrome a
  • Sanfilippo syndrome type A
  • heparan sulfamidase deficiency
  • heparan sulfate sulfatase deficiency
  • heparan sulphate sulfatase deficiency
  • heparane sulfamidase deficiency
  • mucopoly-saccharidosis type 3A
  • mucopolysaccharidosis type 3A
  • mucopolysaccharidosis type IIIA
  • mucopolysaccharidosis type IIIA (Sanfilippo A)
  • mucopolysaccharidosis, type 3A
  • mucopolysaccharidosis, type IIIA
  • sulfamidase deficiencyMPS 3A
  • MPS III A
  • MPS IIIA
  • MPS3A
  • MPSIIIA
  • Sanfilippo A
  • Sanfilippo syndrome a
  • Sanfilippo syndrome type A
  • heparan sulfamidase deficiency
  • heparan sulfate sulfatase deficiency
  • heparan sulphate sulfatase deficiency
  • heparane sulfamidase deficiency
  • mucopoly-saccharidosis type 3A
  • mucopolysaccharidosis type 3A
  • mucopolysaccharidosis type IIIA
  • mucopolysaccharidosis type IIIA (Sanfilippo A)
  • mucopolysaccharidosis, type 3A
  • mucopolysaccharidosis, type IIIA
  • sulfamidase deficiency