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mucopolysaccharidosis type 3A

MIM.252900

Friday 23 October 2009

Synopsis

- Autosomal recessive disease
- Usually normal stature
- Mild coarse facies
- Hearing loss
- Clear corneas
- Synophrys
- Asymmetric septal hypertrophy
- Frequent upper respiratory tract infections
- Thickened ribs
- Mild hepatomegaly
- Mild splenomegaly
- Diarrhea
- Mild dysostosis multiplex
- Dense calvaria
- Ovoid thoracolumbar vertebrae
- Mild joint stiffness
- Hirsutism
- Synophrys
- Coarse hair
- Severe behavioral problems at age 3-4
- Mental retardation
- Hyperactivity
- Seizures
- Slowing mental development by 1.5 to 3 years
- Sleep disturbances common
- Heparan N-sulfatase deficiency in fibroblasts and amniocytes
- Heparan sulfate excretion in urine
- Four clinically indistinguishable biochemically distinct forms
- Caused by mutations in the heparan sulfate sulfatase gene (SGSH, MIM.605270)

See also

- mucopolysaccharidosis type 3 (Sanfillipo syndrome)