Status epilepticus and coma leading to death in a boy caused by Medium-chainacyl-coA dehydrogenase deficiency
| Autor: | ABBASI, Ezatolah, GHAZAVI, Ahad, HASSANVAND AMOUZADEH, Masoud, VALIZADEH, Mohammad, AKHAVAN SEPAHI, Mohsen |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Iranian Journal of Child Neurology |
| ISSN: | 2008-0700 1735-4668 |
| Popis: | 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 metabolic screening program except for phenylketonuria (PKU) and hypothyroidism in Iran, and such screening is exclusively implemented in the case of babies with unprovoked seizures and hypoglycemia and previous unexplained sibling deaths. In this paper, we report a case of a seven-year-old boy who presented with afebrile serial seizures leading to coma and death. IN this regard, metabolic screening tests were used to determine the exact cause of encephalopathy and the final diagnosis. |
| Databáze: | OpenAIRE |
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