DIAGNÓSTICO E TRATAMENTO NA ADRENOLEUCODISTROFIA LIGADA AO X (X--ALD)

Abstract

Adrenoleukodystrophy is a geneticallydetermined with X--linked recessive orsex,, itstransmissionoccurs from mother to ofspring,, af ecting predominantlymales.. The biochemical defect in X--ALD is related toimpairment of partial or total β--oxidation of VLCFA inperoxisome saturated,, caused by various mutations in thegene ABCD1,, responsible for metabolism of VLCFA..Blocking this pathway usually results in neurologicalimpairment,, adrenal glands and testicles.. Besides thetechniques being used,, currently the diagnosis andtreatment of X--ALD is also performed by determining themutation through molecular analysis of gene and drugtherapy also with genes.. This study highlights the mainmeans of early diagnosis of X--ALD,, as well asinformationdescribing how the treatment and prevention throughgenetic counseling.

Index Terms – adrenoleukodystrophy,, VLCFA,,peroxissomal β--oxidation