Adrenoleukodystrophy laboratory findings

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

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.

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[pmid9894883-1] 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.

[pmid10068516-2] 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.

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