The Pathogenesis of Adrenoleukodystrophy
نویسندگان
چکیده
Adrenoleukodystrophy (ALD) is a rare, inherited disorder that affects the brain, spinal cord, and adrenal glands. It caused by mutations in ABCD1 gene, which provides instructions for making protein called ABCD1, involved metabolism of very long-chain fatty acids (VLCFAs). In ALD, body cannot properly break down clear VLCFAs, can lead to accumulation these brain other tissues. This cause inflammation damage cells tissues, leading various symptoms. Symptoms ALD may vary depending on type severity condition. Common symptoms include neurological problems, such as difficulty walking, speaking, behavioral changes, problems with gland, insufficiency condition glands do not produce enough hormones. progressive disorder, meaning worsen over time if left untreated. Treatment typically involves medications supportive care manage prevent complications. Sometimes, bone marrow transplant be recommended replace damaged tissues.
 Genetic testing available used diagnose identify people at risk developing it. Early diagnosis treatment help improve chances full recovery good quality life ALD.
منابع مشابه
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN) and AMN with cerebral demyelination (AMN-C) are the main phenotypic variants of X-linked adrenoleukodystrophy (ALD). It is caused by mutations in the ABCD1 gene encoding a half-size peroxisomal transporter that has to dimerize to become functional. The biochemical hallmark of ALD is the accumulation of very-long-chain f...
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ژورنال
عنوان ژورنال: Journal of Student Research
سال: 2023
ISSN: ['2167-1907']
DOI: https://doi.org/10.47611/jsrhs.v12i2.4272