PMID- 25246622
OWN - NLM
STAT- MEDLINE
DCOM- 20150220
LR  - 20220409
IS  - 1098-4275 (Electronic)
IS  - 0031-4005 (Linking)
VI  - 134
IP  - 4
DP  - 2014 Oct
TI  - Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in 
      severe MADD.
PG  - e1224-8
LID - 10.1542/peds.2013-4254 [doi]
AB  - 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.
CI  - Copyright (c) 2014 by the American Academy of Pediatrics.
FAU - Van Rijt, Willemijn J
AU  - Van Rijt WJ
AD  - Section of Metabolic Diseases.
FAU - Heiner-Fokkema, M Rebecca
AU  - Heiner-Fokkema MR
AD  - Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University 
      of Groningen, University Medical Center Groningen, University of Groningen, 
      Groningen, Netherlands; and.
FAU - du Marchie Sarvaas, Gideon J
AU  - du Marchie Sarvaas GJ
AD  - Department of Pediatric Cardiology, Center for Congenital Heart Diseases, and.
FAU - Waterham, Hans R
AU  - Waterham HR
AD  - Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic 
      Medical Center, University Hospital of Amsterdam, Amsterdam, Netherlands.
FAU - Blokpoel, Robert G T
AU  - Blokpoel RG
AD  - Division of Pediatric Intensive Care, Beatrix Children's Hospital, University of 
      Groningen, University Medical Center Groningen, Groningen, Netherlands;
FAU - van Spronsen, Francjan J
AU  - van Spronsen FJ
AD  - Section of Metabolic Diseases.
FAU - Derks, Terry G J
AU  - Derks TG
AD  - Section of Metabolic Diseases, t.g.j.derks@umcg.nl.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20140922
PL  - United States
TA  - Pediatrics
JT  - Pediatrics
JID - 0376422
RN  - TZP1275679 (3-Hydroxybutyric Acid)
SB  - IM
MH  - 3-Hydroxybutyric Acid/*administration & dosage
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Multiple Acyl Coenzyme A Dehydrogenase Deficiency/*diagnostic imaging/*drug 
      therapy
MH  - *Severity of Illness Index
MH  - Treatment Outcome
MH  - Ultrasonography
OTO - NOTNLM
OT  - cardiomyopathy
OT  - mitochondrial fatty acid oxidation
OT  - multiple acyl coenzyme A dehydrogenase deficiency
OT  - sodium-d,l-3-hydroxybutyrate
EDAT- 2014/09/24 06:00
MHDA- 2015/02/24 06:00
CRDT- 2014/09/24 06:00
PHST- 2014/09/24 06:00 [entrez]
PHST- 2014/09/24 06:00 [pubmed]
PHST- 2015/02/24 06:00 [medline]
AID - peds.2013-4254 [pii]
AID - 10.1542/peds.2013-4254 [doi]
PST - ppublish
SO  - Pediatrics. 2014 Oct;134(4):e1224-8. doi: 10.1542/peds.2013-4254. Epub 2014 Sep 
      22.