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Mucopolysaccharidosis type 3B

rare

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.

Identifiers
MONDO:0009656 OMIM:252920Orphanet:79270
Causal genes
NAGLU
Part of
Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 3
Also known as
MPS III B · MPS IIIB · MPS3B · MPSIIIB · Mucopoly-saccharidosis type 3B

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