D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
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.
Van Hove
Johan L K
JL
Department of Paediatrics University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium. johan.vanhove@uz.kuleuven.ac.be <johan.vanhove@uz.kuleuven.ac.be>
Grünewald
Stephanie
S
Jaeken
Jaak
J
Demaerel
Philippe
P
Declercq
Peter E
PE
Bourdoux
Pierre
P
Niezen-Koning
Klary
K
Deanfeld
John E
JE
Leonard
James V
JV
D020155:3-Hydroxybutyric Acid / Q000627:therapeutic use*; D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D001921:Brain / Q000187:drug effects; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D013237:Stereoisomerism; D016896:Treatment Outcome
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D020155:3-Hydroxybutyric Acid