Mucopolysaccharidosis type 3B
Mucopolysaccharidosis type 3B
Definition
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
Also known as MPS III B, MPS3B, MPSIIIB, mucopolysaccharidosis type 3B, mucopolysaccharidosis type IIIB, N-acetyl-alpha-glucosaminidase deficiency, Sanfilippo B, Sanfilippo syndrome B, Sanfilippo syndrome type B — per MONDO