Klepper Joerg, Leiendecker Baerbel, Heussinger Nicole, Lausch Ekkehart, Bosch Friedrich
Children's Hospital Aschaffenburg Alzenau, Aschaffenburg, Germany.
Department of Paediatric Neurology, University of Essen, Essen, Germany.
Neuropediatrics. 2016 Apr;47(2):132-6. doi: 10.1055/s-0036-1572413. Epub 2016 Feb 22.
High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D). Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic diet and ethosuximide. After 3 years on the diet a gradual increase of blood lipids was followed by rapid, severe asymptomatic hypertriglyceridemia (1,910 mg/dL). Serum lipid apheresis was required to determine liver, renal, and pancreatic function. A combination of medium chain triglyceride-oil and a reduction of the ketogenic diet to 1:1 ratio normalized triglyceride levels within days but triggered severe myoclonic seizures requiring comedication with sultiam. Severe hypertriglyceridemia in children with Glut1D on ketogenic diets may be underdiagnosed and harmful. In contrast to congenital hypertriglyceridemias, children with Glut1D may be treated effectively by dietary adjustments alone.
高脂肪生酮饮食是治疗葡萄糖转运蛋白1缺乏症（Glut1D）的唯一可用方法。在此，我们描述了一名8岁的典型Glut1D女孩，她对3:1生酮饮食和乙琥胺有反应。在饮食治疗3年后，血脂逐渐升高，随后迅速出现严重的无症状高甘油三酯血症（1910mg/dL）。需要进行血清脂质分离术以确定肝脏、肾脏和胰腺功能。中链甘油三酯油与将生酮饮食比例降至1:1相结合，在数天内使甘油三酯水平恢复正常，但引发了严重的肌阵挛性癫痫发作，需要联合使用舒噻美治疗。生酮饮食的Glut1D患儿中的严重高甘油三酯血症可能未得到充分诊断且有害。与先天性高甘油三酯血症不同，Glut1D患儿仅通过饮食调整可能就能得到有效治疗。
