Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
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- 作者：Juan Ignacio Muñoz-Bonet ; María del Carmen Ortega-Sánchez…
- 关键词：HMG ; CoA lyase deficiency ; Reye ; like syndrome ; Alcohol consumption ; Hyperamoniemia ; Sodium phenylacetate and sodium benzoate ; Cytotoxic brain edema ; Cerebral vasospasm
- 刊名：Italian Journal of Pediatrics
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：43
- 期：1-supp
- 全文大小：1041KB
- 刊物主题：Pediatrics; Maternal and Child Health;
- 出版者：BioMed Central
- ISSN：1824-7288
- 卷排序：43
文摘
Background3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterized by recurrent metabolic crises caused by fasting, intercurrent illness and excessive physical exercise. Non ketotic hypoglycemia is normally the cause of primary symptoms but without an immediate treatment the illness can evolve into a worsening metabolic state resembling the Reye’s syndrome that may cause the patient’s death. We report a case with some clinical and therapeutic features not previously described.