Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil

X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the perox isomal metabolism biochemically characterized by the accumulation of very l ong chain fatty acids (VLCFA) in tissues and biological fluids. The major a ccumulated acids are hexacosanoic acid (C-26:0) and tetracosanoic acid (C-2 4:0). The disorder is characterized clinically by central and peripheral de myelination and adrenal insufficiency closely related to the accumulation o f fatty acids. The incidence of X-ALD is estimated to be 1:25,000 males. At least six phenotypes can be distinguished. The most common phenotypes are childhood cerebral ALD and adrenomyeloneuropathy (AMN). The recommended the rapy consists of the use of the glyceroltrioleate/glyceroltricrucate (GTO/G TF,) mixture, known as Lorenzo's Oil, combined with a VLCFA-poor diet. Ther e are alternative treatments such as bone marrow transplantation and immuno suppression, as well as the use of lovastatin and sodium phenylacetate. In the present study we report the clinical and biochemical course of 7 male p atients with X-ALD treated with Lorenzo's Oil and a VLCFA-restricted diet. Treatment produced 50% reduction in C-26:0 and 42.8% reduction in the C-26: 0/C-22:0 ratio. Most patients remained clinically well, although approximat ely 30% of them presented a rapid clinical deterioration. The results sl we d a poor biochemical-clinical correlation for treatment, indicating that ne w therapies for X-ALD are needed in order to obtain a better prognosis for patients.