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Status epilepticus and coma leading to death in a boy caused by Medium-chainacyl-coA dehydrogenase deficiency
Medium-chain acyl-coA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid β- oxidation, which is inherited in an autosomal recessive manner. The enzyme plays a role in hepatic Ketogenesis, which is a significant source of energy during prolonged fasting. There is no met...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Shahid Beheshti University of Medical Sciences
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570626/ https://www.ncbi.nlm.nih.gov/pubmed/34782845 http://dx.doi.org/10.22037/ijcn.v15i4.23925 |