Familial isolated vitamin E deficiency

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Web Resources for Familial isolated vitamin E deficiency


Genetic Databases
GENE database on Familial isolated vitamin E deficiency
Online Mendelian Inheritance in Man (OMIM) on Familial isolated vitamin E deficiency
Pharmacogenomics Knowledge Base (pharmGKB) on Familial isolated vitamin E deficiency
Catalogue Of Somatic Mutations In Cancer (COSMIC) on Familial isolated vitamin E deficiency
Genome information (GenomeNet, KEGG) on Familial isolated vitamin E deficiency
SNP database on Familial isolated vitamin E deficiency
Protein Knowledgebase (UniProtKB) on Familial isolated vitamin E deficiency
Relevant Clinical Literature
Pubmed on Familial isolated vitamin E deficiency
RCT with Familial isolated vitamin E deficiency   from Pubmed
Systematic reviews of Familial isolated vitamin E deficiency   from Pubmed
Familial isolated vitamin E deficiency in N Eng J Med, Lancet,JAMA, BMJ   from Pubmed
Familial isolated vitamin E deficiency in Cochrane Collaboration   from Pubmed
TRIP Database on Familial isolated vitamin E deficiency
Google Scholar on Familial isolated vitamin E deficiency
Bandolier on Familial isolated vitamin E deficiency
UK Guidance
NeLH on Familial isolated vitamin E deficiency
Nice Guidance on Familial isolated vitamin E deficiency
Prodigy Guidance on Familial isolated vitamin E deficiency

Mutations in alpha-tocopherol transfer protein coded for at 8q13.1-q13.3 result in Vitamin E deficiency which causes retinitis pigmentosa and ataxia, decreased vibration sense, and hyporeflexia.

It may be treatable (depending on the genetic defect) with large amounts of Alpha tocopheryl acetate.

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