Ethylmalonic encephalopathy
OMIM:602473Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | ETHE1 |
|---|---|
| Reference transcript | NM_014297.3 |
| DNA Change | c.375_505del130 |
| A.A. Change | p.Ala126Stop |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Barth M, Ottolenghi C, Hubert L, Chr?tien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P.Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis. 2010 Oct 27. |