Adrenoleukodystrophy: Case Report
DOI:
https://doi.org/10.61651/rped.2013v66n1p39-45Keywords:
Adrenoleukodystrophy, Acyl Coenzyme AAbstract
Is a peroxisomal disorder X-linked recessive, cli- nically heterogeneous, ranging from the severe childhood cerebral form to asymptomatic persons characterized by elevated levels of saturated very long chain fatty acids , i.e., >C22:0, particularly in ganglioside and cholesterol ester fractions due the lack of acyl-CoA synthase deficiency caused by a mutation in the ABCD1 gene. The increased con- centration of very long chain fatty acids (VLCFAs) in plasma affects mainly myelin, spinal cord, periphe- ral nerves, adrenal cortex and testis. Its incidence is 1: 17000 men and can occur at different stages of life and even in female carriers, is often a difficult di- sease to diagnose because its clinical presentation.
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