Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042875 (vitamin E deficiency)
 916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin E deficiency causes a neurological disorder characterised by sensory loss, ataxia and retinitis pigmentosa due to free radical mediated neuronal damage. Symptomatic vitamin E deficiency has been reported in genetic defects of the vitamin E transport protein and in malabsorption complicating cholestasis, abetalipoproteinaemia, celiac disease, cystic fibrosis and small bowel resection. There are no reports to date of vitamin E deficiency in patients with primary immunodeficiencies. We describe two CVID patients with the associated enteropathy who developed neurological disease because of vitamin E deficiency, suggesting a possible predisposition to developing this complication. We recommend that all CVID patients with evidence of an enteropathy be screened for vitamin E deficiency, as early detection and consequent treatment may prevent, halt or reverse the neurological sequelae.
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PMID:Vitamin E deficiency induced neurological disease in common variable immunodeficiency: two cases and a review of the literature of vitamin E deficiency. 1520 78

Cataract (opacity of the lens) and age-related degeneration of the macula of the retina are very common causes of disability in old age, and people are living longer. It seems likely that both of these conditions result from gradual photo-oxidative damage. The proteins in cataractous lenses are oxidized and 50 per cent of the fatty acids in membranes of retinal photo-receptors are highly polyunsaturated. The eye normally has unusually high concentrations of vitamin C and zinc which could have protective functions against free radical damage. For cataracts five reported case-control studies are reviewed and two prospective studies one of which included a very large number of subjects. Vitamin intakes were estimated from dietary histories or blood levels. In five of the six studies in which vitamin C was measured it appeared to be protective and vitamin E and carotenoids appeared protective in 5/7 studies. Other descriptive epidemiological studies are going on, including one in the Blue Mountains near Sydney. It is concluded that controlled trials of antioxidant nutrients for cataract prevention are now warranted. As to age-related muscular degeneration (ARMD), severe vitamin E deficiency is known to cause (a different type of) retinal degeneration spontaneously in humans (with cystic fibrosis or abetalipoproteinaemia) and experimentally in animals. Only three human case-control studies of ARMD and diet have been reported thus far and no clear relationship with any particular nutrient has emerged yet. Supplements containing antioxidant vitamins and zinc are being advertised and used in the USA and elsewhere but this is ahead of the evidence. More observational studies are needed and the US National Eye Institute is planning a 10 year intervention study, known as AREDS (Age-Related Eye Disease Study).
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PMID:Nutrients and degenerative eye diseases. 2439 83

Vitamin E (alpha-and gamma-tocopherol) may slow the progression of a number of major degenerative diseases of the nervous system that appear to be significantly worsened by oxidative stress. The effects of vitamin E on excitoxicity in cultured neurones is considered, together with ataxia due to vitamin E deficiency (AVED) arising from abetalipoproteinaemia, cholestatic liver disease, cystic fibrosis, short bowel syndrome, total parenteral nutrition, diabetic peripheral neuropathy and familial isolated vitamin E (FIVE) deficiency. Selenium deficiency in Keshan disease is also described in relation to the cardiomyopathy seen in Friedreich's ataxia. Evidence for any beneficial effects of vitamin E upon the course of Friedreich's ataxia, tardive dyskinesia, amyotrophic lateral sclerosis (motor neurone disease), Parkinson's disease, Alzheimer's disease, and Huntington's disease is examined. The application of vitamin E derivatives as protective agents in posttraumatic injury to the nervous system (stroke, head and spinal cord injury and haemorrhage) is discussed.
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PMID:Vitamin E Status and Neurodegenerative Disease. 2740 31


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