Division of Metabolic Disorders, CHOC Children's Foundation, Department of Pediatrics, University of California Irvine School of Medicine, Orange, CA, USA,
World J Pediatr. 2014 Feb;10(1):83-5. doi: 10.1007/s12519-014-0458-0. Epub 2014 Jan 25.
Effects of circulatory arrest upon an inborn error of metabolism patient are unknown.
A retrospective chart review was performed of outcome and biochemical parameters obtained during palliative cardiac surgery for a mutase-deficient methylmalonic aciduria patient with Ebstein's cardiac anomaly was performed.
The levels of ammonia, methylmalonic acid, free carnitine, and propionylcarnitine of the patient were improved. The patient survived surgery following institution of four metabolic treatment principles: 1) restriction of toxic substrate; 2) promotion of anabolism via administration of carbohydrate and lipid calories; 3) administration of detoxifying levocarnitine and sodium benzoate; and 4) cobalamin enzymatic co-factor administration. The patient died from post-operative dysrhythmia and was posthumously determined to have compound heterozygosity for mutations predicting severe, cobalamin non-responsive disease: c.322C>T/c.1233del3 (p.R108C/p.ΔI412).
Metabolic decompensation is preventable during cardiopulmonary bypass and cardioplegia using four principles of metabolic treatment.
循环骤停对先天性代谢错误患者的影响尚不清楚。
对一名患有埃布斯坦心脏异常的甲基丙二酸尿 mutase 缺乏症患者进行姑息性心脏手术期间获得的结果和生化参数进行回顾性图表审查。
患者的氨、甲基丙二酸、游离肉碱和丙酰肉碱水平得到改善。该患者在实施四项代谢治疗原则后存活下来：1）限制毒性底物；2）通过给予碳水化合物和脂肪热量促进合成代谢；3）给予解毒左卡尼汀和苯甲酸钠；以及 4）给予钴胺素酶辅因子。患者死于术后心律失常，并被确定为具有预测严重钴胺素无反应性疾病的突变的复合杂合性：c.322C>T/c.1233del3（p.R108C/p.ΔI412）。
使用四项代谢治疗原则，可以在体外循环和心脏停搏期间预防代谢失代偿。
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