Format

Send to

Choose Destination
Lancet. 2003 Apr 26;361(9367):1433-5.

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).

Author information

1
Department of Paediatrics University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium. johan.vanhove@uz.kuleuven.ac.be <johan.vanhove@uz.kuleuven.ac.be>

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.

PMID:
12727399
DOI:
10.1016/S0140-6736(03)13105-4
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center