X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
| Autor: | J. Assies, Peter G. Barth, B. van Geel, R. J. A. Wanders |
|---|---|
| Přispěvatelé: | Faculteit der Geneeskunde |
| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Erucic Acids X Chromosome Adolescent Genotype Prenatal diagnosis Review Bioinformatics Microbodies Peroxisomal Disorders Genotype-phenotype distinction Dietary Fats Unsaturated Prenatal Diagnosis Peroxisomal disorder medicine Humans Age of Onset Child Aged business.industry Multiple sclerosis Fatty Acids Peroxisome medicine.disease Psychiatry and Mental health Drug Combinations Phenotype Surgery Adrenoleukodystrophy Female Neurology (clinical) Age of onset business Triolein |
| Zdroj: | Journal of Neurology, Neurosurgery and Psychiatry, 63, 4-14. BMJ Publishing Group |
| ISSN: | 0022-3050 |
| Popis: | X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100 000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy. The X-ALD gene has been identified, but thus far no relation between genotype and phenotype has been found. Diagnosis is relatively easy and can be confirmed reliably, and prenatal testing is possible in affected families. Several therapeutic options, some with promising perspectives, are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD. In this review, the clinical presentation, the relative frequencies of the different phenotypes, and the diagnostic and therapeutic options are presented. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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