Acute profound dystonia in infants with glutaric acidemia.
Acute profound dystonia developed in three previously well infants who were found to have glutaryl-CoA dehydrogenase deficiency in cultured skin fibroblasts. Two patients had excessive urinary excretion of glutaric acid, but one did not. Neuroradiologic studies performed in all three patients at the onset of their illnesses revealed large CSF-containing spaces both within the sylvian fissures and anterior to the temporal lobes. Pathologic examination of the brain of one patient demonstrated cerebral and cerebellar atrophy, shrinkage of the putamen, and white matter vacuolation. Glutaric acidemia may be a common cause of acquired persistent dystonia or choreoathetosis in infancy.
Bergman
I
I
Department of Pediatrics, University Health Center of Pittsburgh.
Finegold
D
D
Gartner
J C
JC
Zitelli
B J
BJ
Claassen
D
D
Scarano
J
J
Roe
C R
CR
Stanley
C
C
Goodman
S I
SI
D001284:Atrophy; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D004421:Dystonia / Q000209:etiology*; D005977:Glutarates / Q000097:blood* / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; 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