[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis].
Glutaracidemia/glutaraciduria type I is an acute or subacute neuropathic disorder of infancy or early childhood. The following symptoms characterize the clinical course: macrocephalus present at birth, cerebral atrophy revealed by CT or MRI scans, most striking in the frontal and temporal lobes, choreoathetosis and dystonia as neurological handicaps. The deficiency of glutaryl-CoA-dehydrogenase leads to glutaracidemia and glutaraciduria. It is reported on a three year old girl. The glutaraciduria is an important differential diagnosis to chorea minor.
Voll
R
R
Abteilung: Pädiatrie/Neuropädiatrie, Rehabilitationsklinik Neckargemünd.
Hoffmann
G F
GF
Lipinski
C G
CG
Trefz
F K
FK
Weisser
J
J
D002675:Child, Preschool; D002819:Chorea / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005977:Glutarates / Q000097:blood*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid
Die Glutarazidämie/Glutarazidurie I als Differentialdiagnose der Chorea minor.