Difference between revisions of "Storage diseases"
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'''Storage diseases''', also '''storage disorders''', are a group of abnormalities where something abnormal accumulates. They arise from inborn errors of metabolism. | '''Storage diseases''', also '''storage disorders''', are a group of abnormalities where something abnormal accumulates. They arise from inborn errors of metabolism. | ||
Most are inherited autosomal recessive.<ref>{{Cite journal | last1 = Kloska | first1 = A. | last2 = Tylki-Szymańska | first2 = A. | last3 = Wegrzyn | first3 = G. | title = [Lysosomal storage diseases--an overview]. | journal = Postepy Biochem | volume = 57 | issue = 2 | pages = 128-32 | month = | year = 2011 | doi = | PMID = 21913413 }}</ref><ref>{{Cite journal | last1 = van der Ploeg | first1 = AT. | last2 = Reuser | first2 = AJ. | title = Pompe's disease. | journal = Lancet | volume = 372 | issue = 9646 | pages = 1342-53 | month = Oct | year = 2008 | doi = 10.1016/S0140-6736(08)61555-X | PMID = 18929906 }}</ref><ref>{{Cite journal | last1 = Chen | first1 = M. | last2 = Wang | first2 = J. | title = Gaucher disease: review of the literature. | journal = Arch Pathol Lab Med | volume = 132 | issue = 5 | pages = 851-3 | month = May | year = 2008 | doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 | PMID = 18466035 }}</ref> | Most are inherited autosomal recessive.<ref>{{Cite journal | last1 = Kloska | first1 = A. | last2 = Tylki-Szymańska | first2 = A. | last3 = Wegrzyn | first3 = G. | title = [Lysosomal storage diseases--an overview]. | journal = Postepy Biochem | volume = 57 | issue = 2 | pages = 128-32 | month = | year = 2011 | doi = | PMID = 21913413 }}</ref><ref>{{Cite journal | last1 = van der Ploeg | first1 = AT. | last2 = Reuser | first2 = AJ. | title = Pompe's disease. | journal = Lancet | volume = 372 | issue = 9646 | pages = 1342-53 | month = Oct | year = 2008 | doi = 10.1016/S0140-6736(08)61555-X | PMID = 18929906 }}</ref><ref name=pmid18466035>{{Cite journal | last1 = Chen | first1 = M. | last2 = Wang | first2 = J. | title = Gaucher disease: review of the literature. | journal = Arch Pathol Lab Med | volume = 132 | issue = 5 | pages = 851-3 | month = May | year = 2008 | doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 | PMID = 18466035 }}</ref> | ||
==Types== | ==Types== | ||
Latest revision as of 02:18, 29 November 2013
Storage diseases, also storage disorders, are a group of abnormalities where something abnormal accumulates. They arise from inborn errors of metabolism.
Most are inherited autosomal recessive.[1][2][3]
Types
References
- ↑ Kloska, A.; Tylki-Szymańska, A.; Wegrzyn, G. (2011). "[Lysosomal storage diseases--an overview].". Postepy Biochem 57 (2): 128-32. PMID 21913413.
- ↑ van der Ploeg, AT.; Reuser, AJ. (Oct 2008). "Pompe's disease.". Lancet 372 (9646): 1342-53. doi:10.1016/S0140-6736(08)61555-X. PMID 18929906.
- ↑ Chen, M.; Wang, J. (May 2008). "Gaucher disease: review of the literature.". Arch Pathol Lab Med 132 (5): 851-3. doi:10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2. PMID 18466035.