Literature DB >> 19907937

Clinical profile of adrenoleukodysrophy.

Shrikrishna V Acharya1, Raju A Gopal, Tushar R Bandgar, Shashank R Joshi, Padma S Menon, Nalini S Shah.   

Abstract

X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of the very long chain fatty acid (VLCFA) oxidation leading to the accumulation of VLCFA in the white matter and adrenal cortex. Retrospective evaluation of medical records of ALD patients were carried out. In all the 5 patients the duration of the symptoms varied from 1-7 years. Most of them presented with Addisonian crisis (4/5) and hyperpigmentation (5/5), white half of them (3/5) had neurological symptoms. All patients had biochemical evidence of the adrenal insufficiency. All siblings of patients should be screened for the possibility of ALD with VLCFA.

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Year:  2009        PMID: 19907937     DOI: 10.1007/s12098-009-0220-0

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  13 in total

Review 1.  X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics.

Authors:  E R Melhem; P B Barker; G V Raymond; H W Moser
Journal:  AJR Am J Roentgenol       Date:  1999-12       Impact factor: 3.959

2.  Improvement of central motor conduction after bone marrow transplantation in adrenoleukodystrophy.

Authors:  T Hitomi; T Mezaki; T Tsujii; M Kinoshita; H Tomimoto; A Ikeda; S Shimohama; T Okazaki; T Uchiyama; H Shibasaki
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-03       Impact factor: 10.154

Review 3.  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

Review 4.  Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy.

Authors:  H W Moser
Journal:  Brain       Date:  1997-08       Impact factor: 13.501

5.  Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy.

Authors:  T Hitomi; T Mezaki; H Tomimoto; A Ikeda; S Shimohama; T Okazaki; T Uchiyama; H Shibasaki
Journal:  Eur J Neurol       Date:  2005-10       Impact factor: 6.089

6.  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

7.  [Examination of very long chain fatty acids in diagnosis of x-linked adrenoleukodystrophy].

Authors:  T J Stradomska; A Tylki-Szymańska
Journal:  Pediatr Pol       Date:  1996-03

8.  Leukodystrophy incidence in Germany.

Authors:  P Heim; M Claussen; B Hoffmann; E Conzelmann; J Gärtner; K Harzer; D H Hunneman; W Köhler; G Kurlemann; A Kohlschütter
Journal:  Am J Med Genet       Date:  1997-09-05

9.  Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro.

Authors:  R W Whitcomb; W M Linehan; R A Knazek
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

10.  X-linked adrenoleukodystrophy in patients with idiopathic Addison disease.

Authors:  P Jorge; D Quelhas; P Oliveira; R Pinto; A Nogueira
Journal:  Eur J Pediatr       Date:  1994-08       Impact factor: 3.183

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  1 in total

1.  Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

Authors:  Neeraj Kumar; Krishna Kant Taneja; Veena Kalra; Madhuri Behari; Satinder Aneja; Surendra Kumar Bansal
Journal:  PLoS One       Date:  2011-09-22       Impact factor: 3.240

  1 in total

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