Favorable Outcome After Physiologic Dose of Sodium-d,l-3-Hydroxybutyrate in Severe MADD
Multiple acyl coenzyme A dehydrogenase deficiency (MADD) is a severe inborn error of metabolism. Experiences with sodium-d,l-3-hydroxybutyrate (3-HB) treatment are limited although positive; however, the general view on outcome of severely affected patients with MADD is relatively pessimistic. Here we present an infant with MADD in whom the previously reported dose of 3-HB did not prevent the acute, severe, metabolic decompensation or progressive cardiomyopathy in the subsequent months. Only after a physiologic dose of 2600 mg/kg of 3-HB per day were ketone bodies detected in blood associated with improvement of the clinical course, N-terminal prohormone of brain natriuretic peptide and echocardiographic parameters. Long-term studies are warranted on 3-HB treatment in patients with MADD.
- multiple acyl coenzyme A dehydrogenase deficiency
- mitochondrial fatty acid oxidation
- Accepted March 27, 2014.
- Copyright © 2014 by the American Academy of Pediatrics