Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene

3-Methylglutaconic aciduria type I (3-MGA I) is a rare inherited disorder of the leucine metabolism pathway due to mutations in the AUH gene for 3-methylglutaconyl-CoA hydratase enzyme and enzyme deficiency. It has a variable phenotypic presentation from infancy to adulthood. Here, we report a three...

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Detalles Bibliográficos
Autores principales: Dudipala, Sai Chandar, M, Prashanthi, B, Krishna Chaithanya, Chenalla, Laxman Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785470/
https://www.ncbi.nlm.nih.gov/pubmed/33425530
http://dx.doi.org/10.7759/cureus.11951

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785470/
https://www.ncbi.nlm.nih.gov/pubmed/33425530
http://dx.doi.org/10.7759/cureus.11951

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