Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.
A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.
Kölker
S
S
University Children's Hospital, Department of General Pediatrics, Heidelberg, Federal Republic of Germany.
Ramaekers
V T
VT
Zschocke
J
J
Hoffmann
G F
GF
D000208:Acute Disease; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000178:diet therapy / Q000628:therapy*; D005977:Glutarates / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy / Q000628:therapy*; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D016896:Treatment Outcome
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase