Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD

• Published in: Pediatrics (Evanston) Vol. 134; no. 4; p. e1224
• Main Authors: Van Rijt, Willemijn J, Heiner-Fokkema, M Rebecca, du Marchie Sarvaas, Gideon J, Waterham, Hans R, Blokpoel, Robert G T, van Spronsen, Francjan J, Derks, Terry G J
• Format: Journal Article
• Language: English
• Published: United States 01.10.2014
• Subjects: 3-Hydroxybutyric Acid - administration & dosage; Female; Humans; Infant, Newborn; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnostic imaging; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - drug therapy; Severity of Illness Index; Treatment Outcome; Ultrasonography; multiple acyl coenzyme A dehydrogenase deficiency; sodium-d,l-3-hydroxybutyrate; cardiomyopathy; mitochondrial fatty acid oxidation
• ISSN: 1098-4275
• DOI: 10.1542/peds.2013-4254

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.