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| Multiple sulfatase deficiency Classification and external resources |
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| OMIM | 272200 |
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| MeSH | D052517 |
Multiple sulfatase deficiency, or Austin's disease, is an inherited lysosomal storage disease1 caused by a deficiency in multiple sulfatase enzymes.2 It is similar to mucopolysaccharidosis.3 The disease is fatal, with symptoms that include neurological damage and severe mental retardation.4 The first symptoms appear soon after birth, with affected children having unusual facial features, developmental delays and an enlarged liver (hepatomegaly).5
References
- ^ Dierks, T; Schmidt, B; Borissenko, Lv; Peng, J; Preusser, A; Mariappan, M; Von, Figura, K (May 2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell 113 (4): 435–44. doi:. ISSN 0092-8674. PMID 12757705.
- ^ Schmidt, B; Selmer, T; Ingendoh, A; Von, Figura, K (July 1995). "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency". Cell 82 (2): 271–8. doi:. ISSN 0092-8674. PMID 7628016.
- ^ Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL (1988). "Multiple sulfatase deficiency". Neurology 38 (8): 1273–5. PMID 2899861.
- ^ Farooqui AA, Horrocks LA (1984). "Biochemical aspects of globoid and metachromatic leukodystrophies". Neurochem Pathol 2 (3): 189–218. doi:. PMID 6152665.
- ^ Burk, R (1984). "Early manifestations of multiple sulfatase deficiency†". The Journal of Pediatrics 104: 574. doi:. PMID 6142938.
External links
Multiple sulfatase deficiency at OMIM
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- This page was last modified on 5 November 2008, at 10:25.
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