Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo’s oil effect
- 260 Downloads
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterized by deficient β-oxidation of saturated very long chain fatty acids (VLCFA). The consequent accumulation of these fatty acids in different tissues and in biological fluids is associated with a progressive central and peripheral demyelination, as well as with adrenocortical insufficiency and hypogonadism. Seven variants of this disease have been described, being cerebral childhood the most frequent. The recommended therapy consists of the use of the glyceroltrioleate/glyceroltrierucate mixture known as Lorenzo’s Oil (LO), combined with a VLCFA-poor diet, but only in asymptomatic patients will this treatment prevent the progression of the symptomatology. In the present study we evaluated the biochemical course of patients with cerebral childhood (CCER) and asymptomatic clinical forms of X-ALD treated with LO associated with a VLCFA-restricted diet. We observed that hexacosanoic acid plasma concentrations and hexacosanoic/docosanoic ratio were significantly reduced in CCER patients during treatment when compared with diagnosis. Hexacosanoic acid plasma level was significantly reduced when compared with that at diagnosis and achieved the normal levels only in asymptomatic patients under LO treatment. In asymptomatic patients the magnitude of hexacosanoic acid decrease was higher than that of the CCER patients. These results show the good biochemical response of LO treatment in asymptomatic X-ALD patients. It is possible to suppose that this could be correlated with the prevention of the appearance of neurological signals in this group of patients treated with LO.
KeywordsAdrenoleukodystrophy Hexacosanoic acid Tetracosanoic acid Lorenzo’s Oil Peroxisomes Very long chain fatty acids
This research was supported by grants from CAPES, CNPq, FAPERGS, PROPESQ/UFRGS and FIPE/HCPA.
- Altman DG (1991) Practical Statistics for Medical Research. Chapman & Hall, LondonGoogle Scholar
- Korenke GC, Hunneman DH, Kohler J, Stöckler S, Landmark K, Hanefeld F (1995) Glyceroltrioleato/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters. Eur J Pediatr 154:64–70PubMedCrossRefGoogle Scholar
- Moser HW, Moser AB (1991) Measurement of saturated very long chain fatty acid in plasma. In: Hommes FA (ed) Techniques of diagnostic human biochemical genetics. Wiley, New YorkGoogle Scholar
- Moser HW, Smith KD, Watkins PA, Powers J, Moser AB (2001) X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 8th edn. McGraw-Hill, New YorkGoogle Scholar
- van Geel BM, Assies J, Haverkort EB, Koelman JHTM, Verbeeten B Jr, Wander RJA, Barth PG (1999) Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with Lorenzo’s oil. J Neurol Neurosurg Psychiatr 67(3):290–299PubMedGoogle Scholar