X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects
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چکیده
منابع مشابه
X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
X-linked adrenoleukodystrophy (X-ALD) is a clinically heterogeneous disorder ranging from the severe childhood cerebral form to asymptomatic persons. The overall incidence is 1:16,800 including hemizygotes as well as heterozygotes. The principal molecular defect is due to inborn mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membran...
متن کاملX-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an...
متن کاملCerebral childhood and adolescent X-linked adrenoleukodystrophy. Clinical presentation, neurophysiological, neuroimaging and biochemical investigations.
Clinical, neurophysiological, neuroimaging and biochemical studies were performed in five boys with childhood and adolescent form of cerebral X-ALD, which is a very rare disease in developmental age. In all patients, rapidly progressive spasticity, ataxia and mental deterioration were found. Seizures occurred in four of them. Additionally, visual and hearing impairment were observed in four and...
متن کاملClinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo’s Oil
X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA) in tissues and biological fluids. The major accumulated acids are hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0). The disorder is characterized clinically by central and peripheral demyelination and adrenal ...
متن کاملClinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disease associated with demyelination of the central nervous system, adrenocortical insufficiency and accumulation of very long chain fatty acids. It is a clinically heterogeneous disorder ranging from a severe childhood cerebral form to an asymptomatic form. The incidence in Japan is estimated to be between 1:30,000 and 1:50,000 boys as determ...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
سال: 2006
ISSN: 0167-4889
DOI: 10.1016/j.bbamcr.2006.07.010