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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...
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| 發表在: | Cureus |
|---|---|
| Main Authors: | , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Cureus
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7785470/ https://ncbi.nlm.nih.gov/pubmed/33425530 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.11951 |
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