Literature DB >> 11916318

Decreasing serum VLCFA levels in ageing X-ALD female carriers.

T J Stradomska1, 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.

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Year:  2001        PMID： 11916318     DOI： 10.1023/a:1013992224811

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  14 in total

1.  X-linked adrenoleukodystrophy: the Australasian experience.

Authors:  E P Kirk; J M Fletcher; P Sharp; B Carey; A Poulos
Journal:  Am J Med Genet       Date:  1998-04-13

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Authors:  K A Wareham; M F Lyon; P H Glenister; E D Williams
Journal:  Nature       Date:  1987 Jun 25-Jul 1       Impact factor: 49.962

3.  Nervonic acid biosynthesis by erucyl-CoA elongation in normal and quaking mouse brain microsomes. Elongation of other unsaturated fatty acyl-CoAs (mono and poly-unsaturated).

Authors:  J M Bourre; O Daudu; N Baumann
Journal:  Biochim Biophys Acta       Date:  1976-01-22

4.  Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement.

Authors:  D Restuccia; V Di Lazzaro; M Valeriani; A Oliviero; D Le Pera; C Colosimo; N Burdi; M Cappa; E Bertini; A Di Biase; P Tonali
Journal:  Brain       Date:  1997-07       Impact factor: 13.501

5.  Genomic 5-methyldeoxycytidine decreases with age.

Authors:  V L Wilson; R A Smith; S Ma; R G Cutler
Journal:  J Biol Chem       Date:  1987-07-25       Impact factor: 5.157

6.  Identification of female carriers of adrenoleukodystrophy.

Authors:  H W Moser; A E Moser; J E Trojak; S W Supplee
Journal:  J Pediatr       Date:  1983-07       Impact factor: 4.406

7.  Increased synthesis of hexacosanoic acid (C23:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).

Authors:  S Tsuji; T Sano; T Ariga; T Miyatake
Journal:  J Biochem       Date:  1981-10       Impact factor: 3.387

8.  Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids.

Authors:  F R Brown; M A Van Duyn; A B Moser; J D Schulman; W B Rizzo; R D Snyder; J V Murphy; S Kamoshita; C J Migeon; H W Moser
Journal:  Johns Hopkins Med J       Date:  1982-10

9.  Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.

Authors:  G Uziel; E Bertini; P Bardelli; M Rimoldi; M Gambetti
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

10.  Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids.

Authors:  R J Wanders; C W van Roermund; M J van Wijland; R B Schutgens; H van den Bosch; A W Schram; J M Tager
Journal:  Biochem Biophys Res Commun       Date:  1988-06-16       Impact factor: 3.575
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  2 in total

1.  The impact of a ketogenic diet and liver dysfunction on serum very long-chain fatty acids levels.

Authors:  T J Stradomska; M Bachański; J Pawłowska; M Syczewska; A Stolarczyk; A Tylki-Szymańska
Journal:  Lipids       Date:  2013-01-31       Impact factor: 1.880

2.  Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

Authors:  Clarissa Troller Habekost; Pedro Schestatsky; Vitor Felix Torres; Daniella Moura de Coelho; Carmen Regla Vargas; Vitor Torrez; Jean Pierre Oses; Luis Valmor Portela; Fernanda dos Santos Pereira; Ursula Matte; Laura Bannach Jardim
Journal:  Orphanet J Rare Dis       Date:  2014-01-13       Impact factor: 4.123
  2 in total

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