Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Creatine monohydrate given orally led to a long-lasting improvement of muscular weakness and ataxia in a girl with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Korenke
G C
GC
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Göttingen, Germany.
Wanders
R J A
RJ
Hanefeld
F
F
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D002648:Child; D003401:Creatine / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000503:physiopathology*; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D018908:Muscle Weakness / Q000188:drug therapy* / Q000209:etiology*; D018482:Muscle, Skeletal / Q000503:physiopathology*; D012008:Recurrence; D012206:Rhabdomyolysis / Q000209:etiology
D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D003401:Creatine