[Carrier state of x-linked adrenoleukodystrophy].
X-linked adrenoleukodystrophy (X-ALD) is a sex-linked, inherited, metabolic disorder affecting the nervous system and endocrine organs. At least 20 to 50% of female carriers develop neurological deficits. Identification of female carriers is important, among other reasons because unnecessary new cases of this disorder, which is frequently lethal in boys, can be prevented by prenatal diagnosis. Furthermore, affected male offspring can be screened for adrenocortical insufficiency, which is treatable, or for early signs of cerebral involvement in which case bone marrow transplantation may be considered. Whether or not someone is a carrier can be investigated by determining the concentrations of saturated very-long-chain fatty acids in the plasma or cultured skin fibroblasts, by looking for the presence of X-ALD protein in cultured fibroblasts and by carrying out mutation analysis. Spasticity, painful muscular cramps, lumbago and arthralgias can be treated symptomatically with the same agents used for other aetiologies. A clinical geneticist can provide advice on heredity and the possibilities of prenatal diagnosis and pre-implantation techniques.
van Geel
B M
BM
Academisch Medisch Centrum, afd. Neurologie, Amsterdam.
D000309:Adrenal Insufficiency / Q000209:etiology; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D017668:Age of Onset; D003937:Diagnosis, Differential; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D018901:Peroxisomal Disorders / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010641:Phenotype; D015995:Prevalence