Adrenoleukodystrophy laboratory findings: Difference between revisions
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Created page with "__NOTOC__ {{Adrenoleukodystrophy}} {{CMG}} ==Overview== ==Laboratory Findings== *The diagnosis is established by clinical findings and the detection of serum ..." |
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__NOTOC__ | __NOTOC__ | ||
{{Adrenoleukodystrophy}} | {{Adrenoleukodystrophy}} | ||
{{CMG}} | {{CMG}}; {{AE}} | ||
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==Overview== | ==Overview== | ||
An elevated concentration of plasma levels of VLCFA suggests the presence of Adrenoleukodystrophy.DNA-based diagnosis can be obtained to look for mutations in the ABCD1 gene in the case of carriers and is particularly important in the diagnosis of the disease in women. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
*The diagnosis is established by clinical findings and the detection of [[blood plasma|serum]] long chain [[fatty acid]] levels. | |||
*[[Chromosome]] study to look for changes ([[mutations]]) in the [[ABCD1]] gene | ===Plasma VLCFA Assay=== | ||
*The diagnosis is established by clinical findings and the detection of [[blood plasma|serum]] long chain [[fatty acid]] levels.<ref name="pmid9894883">{{cite journal| author=Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S | display-authors=etal| title=Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. | journal=Ann Neurol | year= 1999 | volume= 45 | issue= 1 | pages= 100-10 | pmid=9894883 | doi=10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9894883 }} </ref> | |||
===DNA-based Diagnosis=== | |||
*[[Chromosome]] study to look for changes ([[mutations]]) in the [[ABCD1]] gene. It is particularly reliable in carriers<ref name="pmid10068516">{{cite journal| author=Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS| title=Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. | journal=Mol Genet Metab | year= 1999 | volume= 66 | issue= 2 | pages= 128-36 | pmid=10068516 | doi=10.1006/mgme.1998.2779 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10068516 }} </ref> and recommended as the diagnostic assay in women. | |||
===Histopathology: Adrenoleukodystrophy of Brain=== | ===Histopathology: Adrenoleukodystrophy of Brain=== | ||
{{#ev:youtube|bv_Ra5pxPRI}} | {{#ev:youtube|bv_Ra5pxPRI}} | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 14:17, 23 June 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
An elevated concentration of plasma levels of VLCFA suggests the presence of Adrenoleukodystrophy.DNA-based diagnosis can be obtained to look for mutations in the ABCD1 gene in the case of carriers and is particularly important in the diagnosis of the disease in women.
Laboratory Findings
Plasma VLCFA Assay
- The diagnosis is established by clinical findings and the detection of serum long chain fatty acid levels.[1]
DNA-based Diagnosis
- Chromosome study to look for changes (mutations) in the ABCD1 gene. It is particularly reliable in carriers[2] and recommended as the diagnostic assay in women.
Histopathology: Adrenoleukodystrophy of Brain
{{#ev:youtube|bv_Ra5pxPRI}}
References
- ↑ Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S; et al. (1999). "Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls". Ann Neurol. 45 (1): 100–10. doi:10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u. PMID 9894883.
- ↑ Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS (1999). "Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy". Mol Genet Metab. 66 (2): 128–36. doi:10.1006/mgme.1998.2779. PMID 10068516.