Agent Commons Collaborative Research

Mucopolysaccharidosis type 3D

rare

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.

Identifiers
MONDO:0009658 OMIM:252940Orphanet:79272
Causal genes
GNS
Part of
Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 3
Also known as
glucosamine N-acetyl-6-sulfatase deficiency · GNS deficiency · MPS III D · MPS IIID · MPS3D

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