Systemic primary carnitine deficiency with hypoglycemic encephalopathy.
Systemic primary carnitine deficiency with hypoglycemic encephalopathy.
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DOI：
10.6065/apem.2016.21.4.226
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发表时间：
2016-12-01
影响因子：
2.2
通讯作者：
Kim, Hae Sook
中科院分区：
文献类型：
--
作者：
Jun, Jae Sung;Lee, Eun Joo;Kim, Hae Sook
Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia.
