KEGG   DISEASE: Ataxia with isolated vitamin E deficiency (AVED)
Entry
H00981                      Disease                                
Name
Ataxia with isolated vitamin E deficiency (AVED);
Friedreich-like ataxia
  Supergrp
Spinocerebellar degeneration [DS:H01616]
Description
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Nutritional disorders
   Undernutrition
    5B58  Vitamin E deficiency
     H00981  Ataxia with isolated vitamin E deficiency (AVED)
Gene
TTPA [HSA:7274] [KO:K24455]
Comment
Friedreich ataxia is described in H00067. [DS:H00067]
Other DBs
ICD-11: 5B58
ICD-10: E56.0 G11.1
MeSH: C535393
OMIM: 277460
Reference
PMID:16491382
  Authors
Doria-Lamba L, De Grandis E, Cristiani E, Fiocchi I, Montaldi L, Grosso P, Gellera C
  Title
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency.
  Journal
Eur J Pediatr 165:494-5 (2006)
DOI:10.1007/s00431-006-0085-4
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