[Familial adrenoleukodystrophy].
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.
D000302:Adrenal Cortex / Q000503:physiopathology; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000503:physiopathology; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
D005227:Fatty Acids
A propos d'une observation familiale d'adrenoleucodystrophie.