Mucopolysaccharidosis type 3D
Mucopolysaccharidosis type 3D
Definition
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
Also known as glucosamine N-acetyl-6-sulfatase deficiency, GNS deficiency, MPS III D, MPS3D, MPSIIID, mucopolysaccharidosis type 3D, mucopolysaccharidosis type IIID, Sanfilippo D, Sanfilippo syndrome D, Sanfilippo syndrome type D — per MONDO