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Sanfillipo A syndrome; mucopolysaccharidosis 3A; MPS3a
Epidemiology:
1) affects 1 in 24000 individuals (Netherlands, United Kingdom)
2) high incidence & severity of the disease found in the Cayman Islands
Genetics:
1) autosomal recessive
2) associated with defects in SGSH gene
Clinical manifestations:
1) severe mental defects
a) progressive dementia
b) delayed speech
c) aggressive behavior
2) sleep disturbances
3) mild somatic features
4) variation in severity of clinical phenotype
Laboratory:
- heparan-N-sulfatase in fibroblasts
- heparan-N-sulfatase in leukocytes
Management:
- recombinant heparan-N-sulfatase granted orphan status for treatment of Sanfilippo syndrome A [3]
Related
heparan sulfate
N-sulphoglucosamine sulphohydrolase; sulfoglucosamine sulfamidase; heparan sulfamidase; heparan-N-sulfatase (SGSH, HSS)
General
Sanfillipo syndrome; mucopolysaccharidosis-3; polydystrophic oligophrenia; MPS3
Properties
ACCUMULATION: heparan sulfate
DEFICIENCY: N-sulphoglucosamine sulphohydrolase
Database Correlations
OMIM 252900
References
- Textbook of Biochemistry with Clinical Correlations,
3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
- OMIM :accession 252900
- 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