| Multiple sulfatase deficiency | |
| Classification and external resources | |
| OMIM | 272200 |
|---|---|
| eMedicine | / |
| MeSH | [1] |
Multiple sulfatase deficiency, or Austin's disease or mucosulfatidosis[1], is a very rare autosomal recessive[2]:561 lysosomal storage disease[3] caused by a deficiency in multiple sulfatase enzymes.[4]:502[5] It is similar to mucopolysaccharidosis.[6]
An association with SUMF1 has been described.[7][8]
Contents |
Presentation
The disease is fatal, with symptoms that include neurological damage and severe mental retardation.[9] These sulfatase enzymes are responsbile for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome. The accumlation of lipids and mucopolysaccharides inside the lysosome results in symptoms associated with this disorder. Worldwide, forty cases of Multiple Sulfatase Deficiency have been reported to date.
Symptoms
Symptoms of this disorder commonly appear between one and two years of age. Symptoms include mildly coarsened facial features, deafness, ichthyosis[10] and an enlarged liver and spleen (hepatosplenomegaly)[11]. Abnormalities of the skeleton, such as a curving of the spine and breast bone may occur. The skin of individuals afflicted with this disorder, is typically dry. Children affected by this disorder develop more slowly than normal and may display delayed speech and walking skills.
References
- ^ CureHunter: Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ 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:. PMID 12757705.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ 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:. PMID 7628016.
- ^ Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL (1988). "Multiple sulfatase deficiency". Neurology 38 (8): 1273–5. PMID 2899861.
- ^ Cosma MP, Pepe S, Annunziata I, et al. (May 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell 113 (4): 445–56. doi:. PMID 12757706. http://linkinghub.elsevier.com/retrieve/pii/S0092867403003489.
- ^ Dierks T, Schmidt B, Borissenko LV, et al. (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:. PMID 12757705. http://linkinghub.elsevier.com/retrieve/pii/S0092867403003477.
- ^ Farooqui AA, Horrocks LA (1984). "Biochemical aspects of globoid and metachromatic leukodystrophies". Neurochem Pathol 2 (3): 189–218. doi:. PMID 6152665.
- ^ The American Heritage Medical Dictionary: mucosulfatidosis
- ^ Burk, R (1984). "Early manifestations of multiple sulfatase deficiency†". The Journal of Pediatrics 104: 574. doi:. PMID 6142938.
External links
|
||||||||||||||||||||||||||||
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
