X-Linked Adrenoleukodystrophy: Diagnostic and Therapeutic Approach
نویسندگان
چکیده
Adrenoleukodystrophy (ALD) is an X-linked inherited disorder that affects the central nervous system, peripheral nerves, adrenal cortex and testes. Also known as Schilder’s disease and sudanophillic leukodystrophy, ALD is a peroxisomal metabolic storage disease caused by mutations in the ABCD1 gene, involved in the degradation of very long-chain fatty acids (VLCFA). The consequent accumulation of VLCFA leads to progressive central demyelination and adrenal insufficiency.
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...
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Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. Th...
متن کاملX linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
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 lea...
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Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD2 gene locus as determinant of X-ALD phenotypes. Sequence and segregation analysis of the ABCD2 gene...
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