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Case Reports
. 1985 Dec;33(5):427-34.

[Familial adrenoleukodystrophy]

[Article in French]
J M Le Fur, F Le Meur, P Parent, L Toudic, Y Castel
  • PMID: 4093772
Case Reports

[Familial adrenoleukodystrophy]

[Article in French]
J M Le Fur et al. J Genet Hum. 1985 Dec.

Abstract

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.

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