Title: D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)
Authors: Van Hove, Johan ×
Grünewald, Stephanie
Jaeken, Jacques
Demaerel, Philippe
Declercq, Peter
Bourdoux, Pierre
Niezen-Koning, Klary
Deanfeld, John E
Leonard, James V #
Issue Date: Apr-2003
Series Title: Lancet vol:361 issue:9367 pages:1433-5
Abstract: Cardiomyopathy and leukodystrophy are life-threatening complications of multiple acyl-CoA dehydrogenase deficiency (MADD). A 2-year-old boy with this disorder developed rapidly progressive leukodystrophy resulting in complete paralysis within 4 months. Within a week of starting sodium-D,L-3-hydroxybutyrate he had improved. After 2 years, neurological function returned, including walking independently, with progressive improvement of brain MRI. Two additional infants with MADD developed life-threatening cardiomyopathy unresponsive to conventional treatment. On sodium-D,L-3-hydroxybutyrate treatment their cardiac contractility showed progressive and sustained improvement. D,L-3-hydroxybutyrate is a therapeutic option for cerebral and cardiac complications in severe fatty acid oxidation defects.
ISSN: 0140-6736
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Cell Metabolism
Department of Pharmaceutical & Pharmacological Sciences - miscellaneous
Translational MRI (+)
× corresponding author
# (joint) last author

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