alexa Adrenoleukodystrophy | Japan| PDF | PPT| Case Reports | Symptoms | Treatment

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  • Adrenoleukodystrophy

    Adrenoleukodystrophy (ALD) refers to several different inherited conditions that affect the nervous system and adrenal glands. Other names for it are adrenomyeloneuropathy, childhood cerebral ALD, and Schilder-Addison Complex. The gene that causes ALD was identified in 1993. It occurs in about 1 in 20,000 people and mainly affects men. Women can carry ALD without having any symptoms. The symptoms, treatments, and prognosis of ALD vary depending on which type is present. ALD is not curable, but the progression can be slowed in some cases.

  • Adrenoleukodystrophy

    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 the cytosol into the peroxisome for degradation. The phenotypic variability is remarkable ranging from cerebral inflammatory demyelination of childhood onset, leading to death within a few years, to adults remaining pre-symptomatic through more than five decades. There is no general genotype-phenotype correlation in X-ALD.Treatment methods depend on the type of ALD. Steroids can be used to treat Addison’s disease. switching to a diet that contains low levels of VLCFAs, taking Lorenzo’s oil to help lower elevated VLCFA levels, medications to relieve symptoms such as seizures, physical therapy to loosen muscles and reduce spasms

  • Adrenoleukodystrophy

    We identified 10509 patients with ALD from a total of 11.61 million inpatients in the database. The median age was 53 years and 54.7 % were male. The annual incidence of ALD-related hospital admission was estimated to be 131.1 cases/1 million people. The overall mortality rate was 5.9 % (622 cases). The infant (0-3 years), child (4-18 years), and adult in-hospital mortality rates were 2.7 % (7/261), 1.0 % (5/494), and 6.3 % (610/9754), respectively. The infant and child mortality rates were significantly lower than the adult mortality rate (Chi square test: P = 0.03 and P < 0.001, respectively). Hepatitis A virus- and hepatitis C virus-induced ALD had favorable outcomes, with in-hospital mortality rates of approximately 2 %. Plasma exchange and continuous hemodiafiltration were performed in 5.3 % (556 cases) and 3.4 % (360 cases) of all ALD cases, respectively.


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