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Data on Rare Diseases Detailed by Researchers at University of Amsterdam

2012 DEC 28 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- Investigators discuss new findings in Rare Diseases. According to news reporting originating in Amsterdam, Netherlands, by NewsRx journalists, research stated, " X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA;=C22)."

The news reporters obtained a quote from the research from the University of Amsterdam, "A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60'years. In individual patients the disease course remains unpredictable."

According to the news reporters, the research concluded: "This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder."

For more information on this research see: X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet Journal of Rare Diseases, 2012;7():51. (BioMed Central - www.biomedcentral.com/; Orphanet Journal of Rare Diseases - www.ojrd.com)

Our news correspondents report that additional information may be obtained by contacting M. Engelen, Dept. of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

Keywords for this news article include: Europe, Amsterdam, Netherlands, Rare Diseases.

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2012, NewsRx LLC