| 词条 | Familial isolated vitamin E deficiency |
| 释义 |
| name = Familial isolated vitamin e deficiency | synonyms = | image = autorecessive.svg | caption = Familial isolated vitamin e deficiency has an autosomal recessive pattern of inheritance. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Familial Isolated Vitamin E Deficiency also known as Ataxia With Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease.[1][2][3][4] Symptoms are similar to those of Friedreich ataxia. CauseFamilial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[5] Diagnosis{{Empty section|date=July 2017}}Treatment{{Empty section|date=July 2017}}See also
References1. ^{{Cite web|url=http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=96|title=Ataxia with vitamin E deficiency|last=|first=|date=|website=www.orpha.net|publisher=|language=en|access-date=2017-01-19}} 2. ^{{cite journal |pmid=7726167 |vauthors=Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F |title=Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families |volume=56 |issue=5 |pages=1116–24 |issn=0002-9297 |pmc=1801469 |journal=American Journal of Human Genetics |format=Free full text |date=May 1995}} 3. ^{{Cite web|url=https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency|title=ataxia with vitamin E deficiency|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-01-19}} 4. ^{{Cite book|url=https://www.ncbi.nlm.nih.gov/books/NBK1241/|title=GeneReviews(®)|last=Schuelke|first=Markus|date=1993-01-01|publisher=University of Washington, Seattle|editor-last=Pagon|editor-first=Roberta A.|location=Seattle (WA)|pmid=20301419|editor-last2=Adam|editor-first2=Margaret P.|editor-last3=Ardinger|editor-first3=Holly H.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Amemiya|editor-first5=Anne|editor-last6=Bean|editor-first6=Lora JH|editor-last7=Bird|editor-first7=Thomas D.|editor-last8=Ledbetter|editor-first8=Nikki|editor-last9=Mefford|editor-first9=Heather C.}} 5. ^{{cite journal|pmid=12470185 |date=Dec 2002 |vauthors=Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S |title=A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia |volume=59 |issue=12 |pages=1952–53 |issn=0003-9942 |journal=Archives of Neurology |url=http://archneur.ama-assn.org/cgi/pmidlookup?view=long&pmid=12470185 |format=Free full text |doi=10.1001/archneur.59.12.1952 }}{{dead link|date=December 2016 |bot=InternetArchiveBot |fix-attempted=yes }} External links{{Medical resources| DiseasesDB = 30633 | ICD10 = {{ICD10|Group|Major|minor|LinkGroup|LinkMajor}} | ICD9 = {{ICD9|xxx}} | ICDO = | OMIM = 277460 | OMIM_mult = {{OMIM2|600415}} | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}
4 : Autosomal recessive disorders|Rare diseases|Neurological disorders|Vitamin, coenzyme, and cofactor metabolism disorders |
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