Background:Effects of circulatory arrest upon an inborn error of metabolism patient are unknown.Methods:A retrospective chart review was performed of outcome and biochemical parameters obtained during palliative cardi...Background:Effects of circulatory arrest upon an inborn error of metabolism patient are unknown.Methods: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.Results: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).Conclusion:Metabolic decompensation is preventable during cardiopulmonary bypass and cardioplegia using four principles of metabolic treatment.展开更多
基金Commission for Families and Children of Orange County
文摘Background:Effects of circulatory arrest upon an inborn error of metabolism patient are unknown.Methods: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.Results: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).Conclusion:Metabolic decompensation is preventable during cardiopulmonary bypass and cardioplegia using four principles of metabolic treatment.
