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

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Adrenoleukodystrophy

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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

    The mortality rate among Israeli Arab infants under one year old is 2.5 times the mortality rate among Jewish infants, according to a report released Thursday by the Health Ministry.Among the Arab population, the infant mortality rate has gone down from 7.3 in 2009 to 6.4 in 2011.The highest infant mortality rate was detected in southern Israel: 3.7 among the Jewish population and 11.4 among the Arab population.Babies under the age of one who are at a higher risk of dying are those who were born to very young or particularly old mothers. The mortality rate among infants born to women under the age of 20 is 2.9 times the mortality rate among infants born to women aged 30 to 34. The mortality rate among infants born to women over the age of 45 is 2.43 times higher than among infants born to women aged 30 to 34.

 

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