H00981 | |
H number | H00981 |
Name | Ataxia with isolated vitamin E deficiency (AVED); Friedreich-like ataxia |
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 |
Network | - |
Gene | TTPA [HSA:7274] [KO:K24455] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
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 |