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Literature DB >> 1528022

X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect.

R J Wanders¹, C W van Roermund, W Lageweg, B S Jakobs, R B Schutgens, A A Nijenhuis, J M Tager.

Abstract

The adrenoleukodystrophies refer to three genetically distinct disorders all characterized by the accumulation of very long-chain fatty acids. In this paper we will review the biochemical aspects of these leukodystrophies with particular emphasis on the methods used to measure very long-chain fatty acid levels in plasma and their reliability. Furthermore, we will concentrate on the primary defect in the X-linked form of adrenoleukodystrophy.

Entities: Chemical Disease

Mesh：

Substances：

Year: 1992 PMID： 1528022 DOI： 10.1007/bf01799620

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

45 in total

1. [ADDISON'S DISEASE WITH CEREBRAL SCLEROSIS IN CHILDHOOD. A HEREDITARY SYNDROME TRANSMITTED THROUGH CHROMOSOME X?].

Authors: A FANCONI; A PRADER; W ISLER; F LUETHY; R SIEBENMANN
Journal: Helv Paediatr Acta Date: 1963-12

2. First prenatal diagnosis of acyl-CoA oxidase deficiency.

Authors: R J Wanders; A Schelen; N Feller; R B Schutgens; F Stellaard; C Jakobs; B Mitulla; G Seidlitz
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

3. Topography of very-long-chain-fatty-acid-activating activity in peroxisomes from rat liver.

Authors: W Lageweg; J M Tager; R J Wanders
Journal: Biochem J Date: 1991-05-15 Impact factor: 3.857

4. Adreno-leukodystrophy (sex-linked Schilder disease). Ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system.

Authors: H H Schaumburg; J M Powers; K Suzuki; C S Raine
Journal: Arch Neurol Date: 1974-09

5. Distinct long chain and very long chain fatty acyl CoA synthetases in rat liver peroxisomes and microsomes.

Authors: H Singh; A Poulos
Journal: Arch Biochem Biophys Date: 1988-11-01 Impact factor: 4.013

6. Acyl-CoA ligases from rat brain microsomes: an immunochemical study.

Authors: I Singh; A Bhushan; N K Relan; T Hashimoto
Journal: Biochim Biophys Acta Date: 1988-12-16

7. Determination of very-long-chain fatty acids in plasma by a simplified gas chromatographic-mass spectrometric procedure.

Authors: U Caruso; B Fowler; M Erceg; C Romano
Journal: J Chromatogr Date: 1991-01-02

8. Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography.

Authors: F Stellaard; H J ten Brink; R M Kok; L van den Heuvel; C Jakobs
Journal: Clin Chim Acta Date: 1990-11-30 Impact factor: 3.786

9. Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.

Authors: R J Wanders; C W van Roermund; M J van Wijland; R B Schutgens; J Heikoop; H van den Bosch; A W Schram; J M Tager
Journal: J Clin Invest Date: 1987-12 Impact factor: 14.808

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

11 in total

Review 1. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

Authors: B M van Geel; J Assies; R J Wanders; P G Barth
Journal: J Neurol Neurosurg Psychiatry Date: 1997-07 Impact factor: 10.154

2. Metabolism of trideuterated iso-lignoceric acid in rats in vivo and in human fibroblasts in culture.

Authors: A Poulos; P C Stockham; D W Johnson; B C Paton; K Beckman; H Singh
Journal: Lipids Date: 1999-09 Impact factor: 1.880

Review 3. DNA diagnosis of X-linked adrenoleukodystrophy.

Authors: S Seneca; W Lissens
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

4. Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.

Authors: R J Wanders; S Denis; J P Ruiter; R B Schutgens; C W van Roermund; B S Jacobs
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

5. The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae.

Authors: E H Hettema; C W van Roermund; B Distel; M van den Berg; C Vilela; C Rodrigues-Pousada; R J Wanders; H F Tabak
Journal: EMBO J Date: 1996-08-01 Impact factor: 11.598

6. The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease.

Authors: M D Ronghe; J Barton; P E Jardine; E C Crowne; M H Webster; M Armitage; J T Allen; C G Steward
Journal: Arch Dis Child Date: 2002-03 Impact factor: 3.791

7. The deficient degradation of synthetic 2- and 3-methyl-branched fatty acids in fibroblasts from patients with peroxisomal disorders.

Authors: P P Van Veldhoven; S Huang; H J Eyssen; G P Mannaerts
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982