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Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass
Raymond Y Wang, Richard C Chang, Mary E Sowa, Anthony C Chang, Jose E Abdenur
Orange, CA, USA
Author Affiliations: Division of Metabolic Disorders, CHOC Children's Foundation, Department of Pediatrics, University of California Irvine School of Medicine, Orange, CA, USA (Wang RY, Chang RC, Abdenur JE); Department of Clinical Nutrition and Lactation, CHOC Children's, Orange, CA, USA (Sowa ME); Division of Cardiology, Pediatric Subspecialty Faculty, Heart Institute, CHOC Children's, Orange, CA, USA (Chang AC)
Corresponding Author: Raymond Y Wang, MD, Division of Metabolic Disorders, CHOC Children's, 1201 W. La Veta Ave, Orange 92868, CA, USA (Tel: 714-509-8852; Fax: 714-509-3921; Email: rawang@choc.org)
doi: 10.1007/s12519-014-0458-0
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.¦¤I412).
Conclusion: Metabolic decompensation is preventable during cardiopulmonary bypass and cardioplegia using four principles of metabolic treatment.
Key words: bypass; management; methylmalonic aciduria
World J Pediatr 2014;10(1):83-85
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