This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Adrenoleukodystrophy (ALD) is an X-linked disorder caused by defects of the ABCD1 gene, a peroxisomal membrane protein that is a member of the ATP binding cassette transporter protein family. ALD is associated with the accumulation of saturated very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C26:0) in tissues and plasma. This abnormality provides for the diagnostic assay which is exquisitely sensitive in affected males. Incidence of ALD is estimated to be 1:17,000. While the pathogenesis of ALD is incompletely understood, it is very likely that the VLCFA excess contributes to the manifestations of disease. While there is increase in all tissues, the major accumulations of VLCFA and pathology occur in the nervous system and adrenal cortex. Treatment with Lorenzo's oil has recently demonstrated promise in reducing the incidence of the childhood cerebral form of the disorder. We are continuing the treatment in an open trial using MRI and neuropsychological testing as a measure of outcome. Boys between the ages of 18 months and 6 years of age with a normal MRI at baseline assessment. This study is supported by the General Clinical Research Unit at Johns Hopkins Hospital. Boys are admitted to the Pediatric Clinical Research Unit (PCRU) and undergo neurologic assessment, neuropsychological testing, nutritional consultation, baseline blood work, and MRI and magnetic resonance spectroscopy imaging (MRSI). Boys are then begun on treatment with a diet low in fat and with Lorenzo's oil.
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