Adrenoleukodystrophy: phenotypic variability and implications for therapy
نویسندگان
چکیده
منابع مشابه
CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation has been established so far and modifier gene variants are suspected to modulate phenotypes. Specific classes of lipids, enriched in very long-chain ...
متن کاملAdrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.
Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been established so far. Three other peroxisomal ABC transporters currently are known: adrenoleukodystrophy-related protein (ALDRP), 70 kDa peroxisomal membrane protein ...
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Inherited defects in the X-chromosomal adrenoleukodystrophy (ALD; ABCD1) gene are the genetic cause of the severe neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD). Biochemically the accumulation of very long-chain fatty acids, caused by impaired peroxisomal beta-oxidation, is the pathognomonic characteristic of the disease. Due to the X-chromosomal inheritance of X-ALD no data a...
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X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings...
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A sthma is a highly variable disease, in terms of presentation, disease progression over time, and response to therapy. As such, the diagnosis and treatment of asthma in young children and adolescents is often challenging. The differential diagnosis has been described elsewhere and is beyond the scope of this article. At any age, recurrent lower respiratory symptoms associated with cough, wheez...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 1992
ISSN: 0141-8955,1573-2665
DOI: 10.1007/bf01800233