63205 20190709135517.0 doi 10.5546/aap.2017.e279 sideral 101939 ART-2017-101939 spa López Úbeda, Marta Adrenoleucodistrofia ligada al X: presentación de tres casos. Importancia del diagnóstico precoz 2017 Access copy available to the general public Unrestricted X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is 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. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice. info:eu-repo/semantics/openAccess by-nc-nd http://creativecommons.org/licenses/by-nc-nd/3.0/es/ 0.405 2017 PEDIATRICS 118 / 124 = 0.952 2017 Q4 T3 0.184 2017 Pediatrics, Perinatology and Child Health 2017 Q3 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion (orcid)0000-0002-2865-5813 Arriba Muñoz, Antonio de Universidad de Zaragoza (orcid)0000-0002-5750-7350 Ferrer Lozano, Marta (orcid)0000-0003-2832-2266 Labarta Aizpún, José Ignacio Universidad de Zaragoza (orcid)0000-0002-5563-3177 García Jiménez, María C. Universidad de Zaragoza 1006 245 Universidad de Zaragoza Dpto. Fisiatría y Enfermería Área Educación Física y Depor. 1010 670 Universidad de Zaragoza Dpto. Pediatría Radiol.Med.Fís Área Pediatría 115, 5 (2017), e279-e281 Arch. argent. pediatr. Archivos Argentinos de Pediatria 0325-0075 189730 http://zaguan.unizar.es/record/63205/files/texto_completo.pdf Versión publicada 106758 http://zaguan.unizar.es/record/63205/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:63205 articulos driver 2019-07-09-11:55:58 ARTICLE