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Sanfillipo C syndrome; mucopolysaccharidosis 3C; MPS3c
Pathology:
- lysosomal storage disorder
- impaired degradation of heparan sulfate
- progressive & severe neurological deterioration
Genetics:
- associated with defects in HGSNAT gene
Clinical manifestations:
1) symptoms occur during childhood
2) hyperactivity
3) sleep disorders
4) loss of speech
5) behavioral abnormalities
6) neuropsychiatric problems
7) mental retardation
8) hearing loss
9) relatively minor visceral manifestations
- mild hepatomegaly
10) mild dwarfism
11) joint stiffness
12) biconvex dorsolumbar vertebral bodies
13) mild coarse faces
14) hypertrichosis
15) most patients die before adulthood
Related
heparan sulfate
heparan-alpha-glucosaminide N-acetyltransferase (transmembrane protein 76, HGSNAT, TMEM76)
General
Sanfillipo syndrome; mucopolysaccharidosis-3; polydystrophic oligophrenia; MPS3
Properties
ACCUMULATION: heparan sulfate
DEFICIENCY: heparan-alpha-glucosaminide N-acetyltransferase
Database Correlations
OMIM 252930
References
- UniProt :accession Q68CP4
- OMIM :accession 252930