Mucopolysaccharidosis type 3C
Mucopolysaccharidosis type 3C
Definition
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
Also known as heparan-alpha-glucosaminide N-acetyltransferase deficiency, HGSNAT deficiency, MPS III C, MPS3C, MPSIIIC, mucopolysaccharidosis type 3C, mucopolysaccharidosis type IIIC, Sanfilippo C, Sanfilippo syndrome type C — per MONDO