Sanfillipo C syndrome; mucopolysaccharidosis 3C; MPS3c
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Pathology
- lysosomal storage disorder
- impaired degradation of heparan sulfate
- progressive & severe neurological deterioration
Genetics
- associated with defects in HGSNAT gene
Clinical manifestations
- symptoms occur during childhood
- hyperactivity
- sleep disorders
- loss of speech
- behavioral abnormalities
- neuropsychiatric problems
- mental retardation
- hearing loss
- relatively minor visceral manifestations
- mild hepatomegaly
- mild dwarfism
- joint stiffness
- biconvex dorsolumbar vertebral bodies
- mild coarse faces
- hypertrichosis
- most patients die before adulthood