PMID: 11916318Mar 28, 2002Paper

Decreasing serum VLCFA levels in ageing X-ALD female carriers

Journal of Inherited Metabolic Disease
T J Stradomska, A Tylki-Szymańska

Abstract

Adrenoleukodystrophy is an X-linked severe demyelinating disease with pathognomonic accumulation of saturated very long-chain fatty acids (VLCFA) in tissues and body fluids in affected males. The identification of women heterozygotes is also based on increased serum VLCFA concentrations. We describe the results of measuring serum VLCFA concentrations in 59 females of various ages with heightened risk of carrier status. In female carriers aged 22-50 years we found serum VLCFA concentrations in a range characteristic of heterozygotes; VLCFA levels were normal in female carriers aged 55-64 years. In women aged 37-50 years in whom repeat studies of VLCFA concentration were performed after 5 years, a reduction in VLCFA was observed. The results we obtained point to a reduction of serum VLCFA concentrations as X-ALD heterozygotes age.

References

Jan 1, 1991·Developmental Neuroscience·G UzielM Gambetti
Jun 1, 1987·Nature·K A WarehamE D Williams
Jul 1, 1983·The Journal of Pediatrics·H W MoserS W Supplee
Aug 1, 1997·Brain : a Journal of Neurology·H W Moser

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Citations

Dec 8, 2009·Multiple Sclerosis : Clinical and Laboratory Research·Alastair WilkinsNeil J Scolding
Feb 1, 2014·Brain : a Journal of Neurology·Marc EngelenStephan Kemp
Nov 4, 2011·European Journal of Endocrinology·T J StradomskaA Tylki-Szymanska

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.