X-linked adrenoleukodystrophy: first report of the Italian Study Group

In this paper we report Italian data on X-linked adrenoleukodystrophy (ALD) collected from 1985 to 1997. This disease appears to be the most common of the peroxisomal disorders and is associated with a functional defect of th e peroxisomal very long chain fatty acid (VLCFA) oxidation. In Italy 117 ca ses have been recognized, but many cases may be unrecognized due to the het erogeneous clinical manifestations that vary from mild to very severe forms . To control the devastating course of this disease two therapeutic approac hes are under evaluation: bone marrow transplantation (BMT) and dietary tre atment based on a mixture of glyceroyl trioleate (GTO) and glyceroyl trieru cate (GTE). Our experience of 68 subjects submitted to dietary treatment sh ows that almost all patients with signs of cerebral involvement at the begi nning of treatment worsened or died, patients with the milder form, adrenom yeloneuropathy (AMN), remained stable, while 4 of the 15 presymptomatic sub jects developed neurological signs of the disease. In recent years a more a ccurate selection of patients and donors for BMT has given favourable resul ts, but some strict criteria should be respected.