Journal Article

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

Carlo Dionisi-Vici, Daria Diodato, Giuliano Torre, Stefano Picca, Rosanna Pariante, Sergio Giuseppe Picardo, Ivano Di Meo, Cristiano Rizzo, Valeria Tiranti, Massimo Zeviani and Jean De Ville De Goyet

in Brain

Published on behalf of The Guarantors of Brain

Volume 139, issue 4, pages 1045-1051
Published in print April 2016 | ISSN: 0006-8950
Published online February 2016 | e-ISSN: 1460-2156 | DOI: https://dx.doi.org/10.1093/brain/aww013
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

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  • Sensory and Motor Systems
  • Neuropathology
  • Disorders of the Nervous System

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Ethylmalonic encephalopathy is a fatal, rapidly progressive mitochondrial disorder caused by ETHE1 mutations, whose peculiar clinical and biochemical features are due to the toxic accumulation of hydrogen sulphide and of its metabolites, including thiosulphate. In mice with ethylmalonic encephalopathy, liver-targeted adeno-associated virus-mediated ETHE1 gene transfer dramatically improved both clinical course and metabolic abnormalities. Reasoning that the same achievement could be accomplished by liver transplantation, we performed living donor-liver transplantation in an infant with ethylmalonic encephalopathy. Unlike the invariably progressive deterioration of the disease, 8 months after liver transplantation, we observed striking neurological improvement with remarkable achievements in psychomotor development, along with dramatic reversion of biochemical abnormalities. These results clearly indicate that liver transplantation is a viable therapeutic option for ETHE1 disease.

Keywords: ethylmalonic encephalopathy; liver transplant; mitochondrial disorders treatment

Journal Article.  3059 words.  Illustrated.

Subjects: Sensory and Motor Systems ; Neuropathology ; Disorders of the Nervous System

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