mucopolysaccharidosis type 3C
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.
MONDO:0018937
mucopolysaccharidosis type 3
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency
related
HGSNAT deficiency
exact
MPS III C
exact
MPS IIIC
related
MPS3C
exact
MPSIIIC
exact
Mucopoly-saccharidosis type 3C
related
Sanfilippo C
exact
Sanfilippo syndrome type C
exact
heparan-alpha-glucosaminide N-acetyltransferase deficiency
exact
mucopolysaccharidosis type 3C
exact
mucopolysaccharidosis type IIIC
exact
mucopolysaccharidosis, type IIIC
related