Familial isolated vitamin e deficiency
- Familial isolated vitamin e deficiency
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 30633
ICD10 = ICD10|Group|Major|minor|LinkGroup|LinkMajor
ICD9 = ICD9|xxx
ICDO =
OMIM = 277460
OMIM_mult = OMIM2|600415
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =
Familial Isolated Vitamin E Deficiency is a rare, autosomal recessive neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.
Cause
Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.
External Links
*RareDiseases|8595|Ataxia with vitamin E deficiency
*GeneTests|aved
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