X-linked adrenoleukodystrophy diagnosed in three brothers
نویسندگان
چکیده
منابع مشابه
Inflammation in X - linked Adrenoleukodystrophy
Project Description: Cells compute by processing external stimuli according to their internal state, abiding to rules that remain poorly understood (Rubens et al., 2016). Cell fate decisions are the key for constructing a multicellular organism. Errors, bias or aberrant delays in making such decisions can lead to neoplasia or in extreme cases, tumorigenesis. Our key question is how cells make d...
متن کاملMRI in X-linked adrenoleukodystrophy.
A 45-year-old man with no medical history presented with behavioral changes. He was withdrawn from his family and friends. Home and finances had fallen into disorder. He was disheveled and incontinent of urine and feces. He lacked insight into his cognitive decline. His skin was bronzed and the examination was notable only for upgoing plantar responses. Peroxisomal fatty acid profile was elevat...
متن کاملAdrenoleukodystrophy: heterogeneity in two brothers.
A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis ...
متن کاملPathophysiology of X-linked adrenoleukodystrophy☆
Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 (formerly adrenoleukodystrophy protein, ALDP). ABCD1 transports CoA-activated very long-chain fatty acids from ...
متن کاملBezafibrate for X-Linked Adrenoleukodystrophy
UNLABELLED X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids (VLCFA) and subsequent VLCFA accumulation in tissues. In adulthood X-ALD most commonly manifests as a gradually progressive myelopathy, (adrenomyeloneuropathy; AMN) without any curative or disease modifying treatments. We recent...
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ژورنال
عنوان ژورنال: Pediatric Endocrinology Diabetes and Metabolism
سال: 2019
ISSN: 2081-237X
DOI: 10.5114/pedm.2019.85821