Document Detail


Cognitive outcome in urea cycle disorders.
MedLine Citation:
PMID:  15050975     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Despite treatment, cognitive and motor deficits are common in individuals with inherited urea cycle disorders. However, the extent to which the deficits involve specific cognitive or sensorimotor domains is unknown. Furthermore, little is known about the neurochemical basis of cognitive impairment in these disorders. This paper reviews studies of cognitive and motor dysfunction in urea cycle disorders, and discusses potential venues for investigation of the underlying neural basis that may elucidate these defects. Such methods of investigation may serve as a model for studying the relationship between genes, biochemical markers, brain function, and behavior in other metabolic diseases.
Authors:
Andrea L Gropman; Mark L Batshaw
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  81 Suppl 1     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-03-30     Completed Date:  2005-02-16     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  S58-62     Citation Subset:  IM    
Affiliation:
Children's Research Institute, Children's National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010-2916, USA.
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MeSH Terms
Descriptor/Qualifier:
Age of Onset
Child
Cognition Disorders / metabolism*
Female
Humans
Hyperammonemia / complications
Male
Mental Retardation / etiology
Ornithine Carbamoyltransferase Deficiency Disease / complications*,  genetics
Urea / metabolism*
Grant Support
ID/Acronym/Agency:
HD 93004677/HD/NICHD NIH HHS; K12 RR17613/RR/NCRR NIH HHS; M01 RR13297/RR/NCRR NIH HHS; U54 RR019453/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
57-13-6/Urea

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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