14个月大女性因琥珀酰辅酶A：3-氧代酸辅酶A转移酶缺乏症伴严重酸中毒病例：基因点突变致病性的证据
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the Gene.
作者信息
Zheng Daniel J, Hooper Michael, Spencer-Manzon Michele, Pierce Richard W
机构信息
Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut, United States.
Department of Genetics, Yale School of Medicine, New Haven, Connecticut, United States.
出版信息
J Pediatr Intensive Care. 2018 Mar;7(1):62-66. doi: 10.1055/s-0037-1604270. Epub 2017 Jul 19.
Abstract
We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. She presented with lethargy, tachypnea, and hyperpnea with hypoglycemia and a severe anion gap metabolic acidosis. Early management included correction of the acidosis and metabolic support with dextrose and insulin. Inborn errors of metabolism are rare outside the neonatal period. However, SCOT deficiency may present at older ages. Maintaining a high index of suspicion, immediate transfer to a pediatric intensive care unit, and prompt metabolic support are key to achieving a favorable outcome.
摘要
我们描述了一例14个月大、身体健康的女性患琥珀酰辅酶A：3-氧代酸辅酶A转移酶（SCOT）缺乏症的病例。她出现嗜睡、呼吸急促和呼吸深快，伴有低血糖和严重的阴离子间隙代谢性酸中毒。早期治疗包括纠正酸中毒以及用葡萄糖和胰岛素进行代谢支持。新生儿期以外的先天性代谢缺陷较为罕见。然而，SCOT缺乏症可能在较大年龄出现。保持高度的怀疑指数、立即转至儿科重症监护病房以及迅速进行代谢支持是取得良好预后的关键。
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