X-linked adreno leukodistrophy: Profiles of very long chain fatty acids in plasma and fibroblasts in eight Serbian patients

X-linked adrenoleukodistrophy is a severe neurodegenerative disorder with impaired very long chain fatty acid metabolism. The disease associated ABCD1 gene encodes a peroxisomal membrane protein which belongs to the superfamily of ATP-binding cassette transporters. We investigated eight male X-ALD p...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of clinical biochemistry 2007-09, Vol.22 (2), p.118-122
Main Authors: Grkovic, Sanja, Nikolic, Rajko, Djordjevic, Maja, Stojanov, Ljubomir, Zivancevic-Simonovic, Snezana, Djordjevic-Denic, Gordana, Kecman, Bozica
Format: Article
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:X-linked adrenoleukodistrophy is a severe neurodegenerative disorder with impaired very long chain fatty acid metabolism. The disease associated ABCD1 gene encodes a peroxisomal membrane protein which belongs to the superfamily of ATP-binding cassette transporters. We investigated eight male X-ALD patients diagnosed among 142 suspected patients referred for investigation. Plasma levels of very long chain fatty acids were measured at our laboratory using capillary gas chromatography. Eight cases of childhood X-ALD were diagnosed. This is the first published series of Serbian patients with X-ALD. In addition, diagnosis identifies carriers, which could be benefit for genetic counselling and prenatal diagnosis.
ISSN:0970-1915
0974-0422
DOI:10.1007/BF02913328