A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1

Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macro...

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Detalles Bibliográficos
Autores principales: Pusti, S., Das, N., Nayek, K., Biswas, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921946/
https://www.ncbi.nlm.nih.gov/pubmed/24587932
http://dx.doi.org/10.1155/2014/256356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921946/
https://www.ncbi.nlm.nih.gov/pubmed/24587932
http://dx.doi.org/10.1155/2014/256356

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