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Pediatrics. 2014 Oct;134(4):e1224-8. doi: 10.1542/peds.2013-4254. Epub 2014 Sep 22.

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

Author information

1
Section of Metabolic Diseases.
2
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; and.
3
Department of Pediatric Cardiology, Center for Congenital Heart Diseases, and.
4
Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, Netherlands.
5
Division of Pediatric Intensive Care, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, Netherlands;
6
Section of Metabolic Diseases, t.g.j.derks@umcg.nl.

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.

KEYWORDS:

cardiomyopathy; mitochondrial fatty acid oxidation; multiple acyl coenzyme A dehydrogenase deficiency; sodium-d,l-3-hydroxybutyrate

PMID:
25246622
DOI:
10.1542/peds.2013-4254
[Indexed for MEDLINE]
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