C84897Level 9
Mucopolysaccharidosis Type IIIA
**Semantic type:** Disease or Syndrome
**Definition:** 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 III A - Sanfilippo A
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