RESUMEN
Adrenoleucodystrophy (ALD) is an X-linked hereditary disease concerning very long chain fatty acid (VLCFA) metabolism. It affects cerebral white matter and adrenal cortex. In the adult form, (adrenomyeloneuropathy) we also find hypogonadism. The enzymatic anomaly, yet unknown, takes place in the peroxisome. The illness is diagnosed by plasma VLCFA amount determination. We actually have no efficient treatment. Prenatal diagnosis is possible, using both biochemical assays and linkage analysis to a DNA probe.
Asunto(s)
Adrenoleucodistrofia/genética , Esclerosis Cerebral Difusa de Schilder/genética , Corteza Suprarrenal/fisiopatología , Adrenoleucodistrofia/fisiopatología , Encéfalo/fisiopatología , Niño , Ácidos Grasos/sangre , Femenino , Humanos , Masculino , Linaje , Embarazo , Diagnóstico Prenatal , Cromosoma XRESUMEN
The juvenile type of adrenoleukodystrophy is a X linked genetic disorder involving the central nervous system and the adrenal cortex. It is associated with an abnormal metabolism of saturated very long chain fatty acids. The basic defect remains unknown and there is presently no effective treatment. The authors report a familial observation which illustrates the efficacy of the techniques of identification of heterozygote females carriers and of prenatal diagnosis from trophoblast biopsy.