Identification of female carriers of adrenoleukodystrophy

J Pediatr. 1983 Jul;103(1):54-9. doi: 10.1016/s0022-3476(83)80775-6.


The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / blood
  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Fatty Acids / analysis
  • Female
  • Fibroblasts / analysis
  • Heterozygote*
  • Humans
  • Middle Aged
  • Skin / analysis


  • Fatty Acids