Adrenoleukodystrophy (ALD): investigations

Very long chain fatty acids (VLCFAs)

• C26:0: the levels are increased in plasma, cultured skin fibroblasts, and blood cells
• C24:0/C22:0 and C26:0/C22:0 ratios: these are increased

Hormone tests

Genetic testing

Magnetic resonance imaging (MRI) brain: sites of demyelination

Magnetic resonance imaging (MRI) brain: sites of atrophy

References

1. Mukherjee S, Newby E, Harvey JN. Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis. J R Soc Med 2006; 99:245-249.
2. Kumar AJ, Köhler W, Kruse B, et al. MR findings in adult-onset adrenoleukodystrophy. Am J Neuroradiol 1995; 16:1227-1237.
3. Kennedy CR, Allen JT, Fensom AH, Steinberg SJ, Wilson R. X-linked adrenoleukodystrophy with nondiagnostic plasma very long chain fatty acids. JNNP 1994; 57:759-761.
4. Das G, Baglioni P, Kadiyala R. Importance of family history in patients with adrenoleukodystrophy QJM 2010; 103:628-630.
5. van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. JNNP 1997; 63:4-14. 
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Related checklists

• Adrenoleukodystrophy (ALD): genetics and pathology
• Adrenoleukodystrophy (ALD): neurological features
• Adrenoleukodystrophy (ALD): systemic features
• Adrenoleukodystrophy (ALD): differential diagnosis
• Adrenoleukodystrophy (ALD): surveillance
• Adrenoleukodystrophy (ALD): treatment