Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

Glutaric acidemia type I (GA-I) is a treatable autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encepha...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Fraidakis, M. J., Liadinioti, C., Stefanis, L., Dinopoulos, A., Pons, R., Papathanassiou, M., Garcia-Villoria, J., Ribes, A.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361931/
https://ncbi.nlm.nih.gov/pubmed/25256449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_353
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