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.
BACKGROUND: Effects of circulatory arrest upon an inborn error of metabolismpatient are unknown. METHODS: A retrospective chart review was performed of outcome and biochemical parameters obtained during palliative cardiac surgery for a mutase-deficient methylmalonic aciduriapatient 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.
Authors: Lisa C Worgan; Kirsten Niles; Jamie C Tirone; Adam Hofmann; Andrei Verner; Alya'a Sammak; Terrence Kucic; Pierre Lepage; David S Rosenblatt Journal: Hum Mutat Date: 2006-01 Impact factor: 4.878
Authors: M Tomaske; A Bosk; M K Heinemann; L Sieverding; E R Baumgartner; B Fowler; F K Trefz Journal: J Inherit Metab Dis Date: 2001-08 Impact factor: 4.982
Authors: Carlos E Prada; Fatma Al Jasmi; Edwin P Kirk; Maxwell Hopp; Owen Jones; Nancy D Leslie; T Andrew Burrow Journal: J Pediatr Date: 2011-07-23 Impact factor: 4.406
Authors: C H Attenhofer Jost; H M Connolly; W D Edwards; D Hayes; Carole A Warnes; G K Danielson Journal: Swiss Med Wkly Date: 2005-05-14 Impact factor: 2.193