Familial adrenoleukodystrophy
Le Fur, J.M.; Le Meur, F.; Parent, P.; Toudic, L.; Castel, Y.
Journal de Genetique Humaine 33(5): 427-434
1985
ISSN/ISBN: 0021-7743 PMID: 4093772 Document Number: 266656
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.