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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2020
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| Materias: | |
| 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 |