Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
Department of Neurology, University of Heidelberg, Germany.
S
S
Külkens
I
I
Harting
S
S
Sauer
J
J
Zschocke
G F
GF
Hoffmann
S
S
Gruber
O A
OA
Bodamer
S
S
Kölker
D017668:Age of Onset; D000368:Aged; D001284:Atrophy / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D020739:Brain Diseases, Metabolic, Inborn / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology*; D002331:Carnitine / Q000627:therapeutic use; D002540:Cerebral Cortex / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology*; D003072:Cognition Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005526:Food, Formulated; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D020547:Lateral Ventricles / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D016896:Treatment Outcome
D050770:Glutaryl-CoA Dehydrogenase; D002331:Carnitine