title: Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.
abstract: 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.
authors.affiliation: Section of Metabolic Diseases.
authors.forename: Willemijn J
authors.initials: WJ
authors.lastname: Van Rijt
authors.affiliation: Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; and.
authors.forename: M Rebecca
authors.initials: MR
authors.lastname: Heiner-Fokkema
authors.affiliation: Department of Pediatric Cardiology, Center for Congenital Heart Diseases, and.
authors.forename: Gideon J
authors.initials: GJ
authors.lastname: du Marchie Sarvaas
authors.affiliation: Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, Netherlands.
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.affiliation: Division of Pediatric Intensive Care, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, Netherlands;
authors.forename: Robert G T
authors.initials: RG
authors.lastname: Blokpoel
authors.affiliation: Section of Metabolic Diseases.
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
authors.affiliation: Section of Metabolic Diseases, t.g.j.derks@umcg.nl.
authors.forename: Terry G J
authors.initials: TG
authors.lastname: Derks
mesh_terms: D020155:3-Hydroxybutyric Acid / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000000981:diagnostic imaging* / Q000188:drug therapy*; D012720:Severity of Illness Index; D016896:Treatment Outcome; D014463:Ultrasonography
chemical_list: D020155:3-Hydroxybutyric Acid
keywords: cardiomyopathy; mitochondrial fatty acid oxidation; multiple acyl coenzyme A dehydrogenase deficiency; sodium-d,l-3-hydroxybutyrate