| Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. | |
| | |
MedLine Citation:
|
PMID: 18516804 Owner: HSR Status: MEDLINE |
Abstract/OtherAbstract:
|
(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. |
| | |
Authors:
|
- |
Related Documents
:
|
15699064 - Radial transport of water and abscisic acid (aba) in roots of zea mays under conditions... 4729974 - Fat absorption in essential fatty acid deficiency: a model experimental approach to stu... 9560034 - Essential fatty acid metabolism in infants with cholestasis. 11224654 - Directed modification instead of normalization of fatty acid patterns in cystic fibrosi... 7887924 - Elucidation of antioxidant activity of alpha-lipoic acid toward hydroxyl radical. 12586404 - Vacuolar system of ungerminated colletotrichum graminicola conidia: convergence of auto... |
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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Amino-Acid N-Acetyltransferase / deficiency* Child Child, Preschool Clinical Trials as Topic Europe Glutamates / administration & dosage, adverse effects, therapeutic use* Humans Hyperammonemia / drug therapy*, etiology Infant Infant, Newborn Metabolism, Inborn Errors / complications, drug therapy* Urea / metabolism |
| Chemical | |
Reg. No./Substance:
|
0/Glutamates; 57-13-6/Urea; EC 2.3.1.1/Amino-Acid N-Acetyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Aliskiren: new drug. Arterial hypertension: no evidence of clinical efficacy.
Next Document: 0.4% glyceryl trinitrate ointment: new drug. Not useful for anal fissures.