Sanfillipo A syndrome; mucopolysaccharidosis 3A; MPS3a
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Epidemiology
- affects 1 in 24000 individuals (Netherlands, United Kingdom)
- high incidence & severity of the disease found in the Cayman Islands
Genetics
- autosomal recessive
- associated with defects in SGSH gene
Clinical manifestations
- severe mental defects
- progressive dementia
- delayed speech
- aggressive behavior
- sleep disturbances
- mild somatic features
- variation in severity of clinical phenotype
Laboratory
Management
- recombinant heparan-N-sulfatase granted orphan status for treatment of Sanfilippo syndrome A[3]
More general terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
- ↑ OMIM https://mirror.omim.org/entry/252900
- ↑ 3.0 3.1 Committee for Orphan Medicinal Products Public summary of positive opinion for orphan designation of recombinant human heparan-N-sulfatase for the treatment of mucopolysaccharidosis III, type A (Sanfilippo A syndrome) June 24, 2009 http://www.ema.europa.eu/docs/en_GB/document_library/Orphan_designation/2009/10/WC500005941.pdf