Continuous Hemodiafiltration in the Treatment of Hyperammonemia Due to Methylmalonic Acidemia

Abstract

Methylmalonic academia (MMA) is a rare inborn error of branched-chain amino acid metabolism. Therapy consists of a special formulated protein diet, carnitine supplementation, and emergent detoxification during acute decompensation. Continuous hemodiafiltration is a modality choice to treat acute metabolic decompensation in inborn error of metabolism. We report the successful use of continuous hemodiafiltration in the management of acute decompensation in patients with methylmalonic academia. Three male patients were diagnosed with methylmalonic academia with the initial presentation of hyperammonemia. Continuous hemodiafiltration was utilized to treat acute decompensation of metabolic crisis. This approach results in a rapid reduction of systemic toxin levels. Continuous hemodiafiltration should be considered as a treatment modality for symptomatic neonates with MMA where hemodialysis is not feasible.

Hyperammonemic Encephalopathy After Induction Chemotherapy for Acute Lymphoblastic Leukemia

“…Although the therapeutic strategy for IHA is unknown, early and aggressive therapeutic efforts including hemodialysis or hemofiltration and the use of ammonia-trapping agents are warranted given the grave prognosis of this syndrome. [8][9][10][11] In most institutions, ammonia levels are not routinely measured after induction chemotherapy for leukemia, especially if other tests of liver function are normal or only mildly elevated. Ammonia levels should be monitored in all patients with unexplained neurologic symptoms and the combination of hyperammonemia and respiratory alkalosis should prompt a suspicion of IHA.…”

Continuous Renal Replacement Therapy for Treatment of Severe Attacks of Inborn Errors of Metabolism

“…High-flow CVVH (> 35 mL/kg/h) provides good clearance for organic acids and ammonium. 4 High clearance is critical because longer metabolic decompensation period is related to worse prognosis. 5 As we set the total effluent rates of continuous hemodialysis and/or hemofiltration as 3 to 5 L/1.73 m 2 /h and the body surface in children is proportionally larger than that of adults, the effluent flow is higher than it would be when calculated as per kg/h.…”