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Mucopolysaccharidosis type 3C

rare

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.

Identifiers
MONDO:0009657 OMIM:252930Orphanet:79271
Causal genes
HGSNAT
Part of
Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 3
Also known as
Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency · heparan-alpha-glucosaminide N-acetyltransferase deficiency · HGSNAT deficiency · MPS III C · MPS IIIC

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