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...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1989-02, Vol.83 (2), p.228-234
Main Authors: BERGMAN, I, FINEGOLD, D, GARTNER, J. C. JR, ZITELLI, B. J, CLAASSEN, D, SCARANO, J, ROE, C. R, STANLEY, C, GOODMAN, S. I
Format: Article
Language:English
Subjects:
Aminoacid disorders
Atrophy
Biological and medical sciences
Brain - pathology
Cerebellum - pathology
Dystonia - etiology
Errors of metabolism
Glutarates - blood
Glutarates - urine
Glutaryl-CoA Dehydrogenase
Humans
Infant
Male
Medical sciences
Metabolic diseases
Oxidoreductases - deficiency
Oxidoreductases Acting on CH-CH Group Donors
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Summary: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.
ISSN:0031-4005
1098-4275