Abstract
INTRODUCTION: X linked adrenoleucodystrophy is a congenital peroxisomal disease caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. Progressive neurological dysfunction and adrenal insufficiency characterize the clinical spectrum.
OBJECTIVE: to present clinical, radiological and biochemical results in eight patients sew in our facilities.
MATERIAL AND METHODS: we sew 25 patients at our Congenital Metabolic Disorders Institution in Bogotá-Colombia from 200 to 2004. With neuropediatrics evaluation, magnetic resonance image and biochemical assies we identified eight cases of X linked adrenoleucodystrophy, confirmed by serum levels of very long chain fatty acids in all cases and by spectroscopy in three.
RESULTS: age range from 5 to 26 years old. Clinical picture was hetogeneous, one patients was asymptomatic, Two patients had adrenal insufficiency and other had adrenoleucodystrophy.
CONCLUSIONS: these metabolic disorders have a very loud prevalence and its clinical picture is heterogeneous. Determination of saturated very long chain fatty acids are needed (Acta Neurol Colomb 2005;21:299-305).
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