Clinical profile of adrenoleukodysrophy.
Loading...
Date
2009-10
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
Adrenoleukodystrophy, VLCFA (very long chain fatty acids), Hyperkinetic behaviour: BMT (bone marrow
Citation
Acharya Shrikrishna V, Gopal Raju A, Bandgar Tushar R, Joshi Shashank R, Menon Padma S, Shah Nalini S. Clinical profile of adrenoleukodysrophy. Indian Journal of Pediatrics. 2009 Oct; 76(10): 1045-1047.