伴有低血糖性脑病的全身性原发性肉碱缺乏症。
Systemic primary carnitine deficiency with hypoglycemic encephalopathy.
作者信息
Jun Jae Sung, Lee Eun Joo, Park Hyung Doo, Kim Hae Sook
机构信息
Department of Pediatrics, Fatima Hospital, Daegu, Korea.
Department of Pediatrics, Daegu Catholic University Hospital, Daegu Catholic University College of Medicine, Daegu, Korea.
出版信息
Ann Pediatr Endocrinol Metab. 2016 Dec;21(4):226-229. doi: 10.6065/apem.2016.21.4.226. Epub 2016 Dec 31.
Abstract
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.
摘要
儿童急性低血糖是急诊科常见的疾病。大多数儿童低血糖病例是由于未进食导致的酮症性低血糖。通常，也会发生低酮性低血糖，这提示高胰岛素血症或脂肪酸氧化缺陷。肉碱对于长链脂肪酸转运至线粒体进行氧化至关重要。我们报告一例因低酮性低血糖发作的全身性原发性肉碱缺乏症病例。
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