Document Detail

Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
MedLine Citation:
PMID:  18516804     Owner:  HSR     Status:  MEDLINE    
(1) N-acetylglutamate synthase deficiency is a rare congenital disorder that causes hyperammonaemic comas, resulting in severe neurological morbidity and usually leading to death during childhood. (2) Carglumic acid is the first drug to be used for replacement therapy. Data available in 2003 showed beneficial effects on growth and psychomotor development. (3) In 2007, about 20 patients treated with carglumic acid for N-acetyglutamate synthase deficiency, for at least 5 years in half of cases, were all still alive. Their development was normal when treatment was initiated before complications occurred. (4) No serious adverse effects have been observed. (5) In practice, although this treatment has to continue for life, carglumic acid represents a major advance for patients with N-acetylglutamate synthase deficiency.
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prescrire international     Volume:  17     ISSN:  1167-7422     ISO Abbreviation:  Prescrire Int     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-06-02     Completed Date:  2008-06-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9439295     Medline TA:  Prescrire Int     Country:  France    
Other Details:
Languages:  eng     Pagination:  50-1     Citation Subset:  T    
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MeSH Terms
Amino-Acid N-Acetyltransferase / deficiency*
Child, Preschool
Clinical Trials as Topic
Glutamates / administration & dosage,  adverse effects,  therapeutic use*
Hyperammonemia / drug therapy*,  etiology
Infant, Newborn
Metabolism, Inborn Errors / complications,  drug therapy*
Urea / metabolism
Reg. No./Substance:
0/Glutamates; 57-13-6/Urea; EC N-Acetyltransferase

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

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