Document Detail

Acute profound dystonia in infants with glutaric acidemia.
MedLine Citation:
PMID:  2643800     Owner:  NLM     Status:  MEDLINE    
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.
I Bergman; D Finegold; J C Gartner; B J Zitelli; D Claassen; J Scarano; C R Roe; C Stanley; S I Goodman
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Pediatrics     Volume:  83     ISSN:  0031-4005     ISO Abbreviation:  Pediatrics     Publication Date:  1989 Feb 
Date Detail:
Created Date:  1989-03-01     Completed Date:  1989-03-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  228-34     Citation Subset:  AIM; IM    
Department of Pediatrics, University Health Center of Pittsburgh.
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MeSH Terms
Brain / pathology
Cerebellum / pathology
Dystonia / etiology*
Glutarates / blood*,  urine
Glutaryl-CoA Dehydrogenase
Oxidoreductases / deficiency*
Oxidoreductases Acting on CH-CH Group Donors*
Reg. No./Substance:
0/Glutarates; 110-94-1/glutaric acid; EC 1.-/Oxidoreductases; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC Dehydrogenase

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