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N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia.
MedLine Citation:
PMID:  21207059     Owner:  NLM     Status:  Publisher    
Hyperammonemia occurs mainly in patients with branched-chain organic acidemias such as propionic, methylmalonic, and isovaleric acidemias. Its pathophysiological process is mainly via the competitive inhibition of N-acetylglutamate synthetase. Oral carglumic acid (N-carbamylglutamate) administration can correct hyperammonemia in neonates with propionic and methylmalonic acidemias, thus avoiding dialysis therapy. Isovaleric acidemia is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase. For the first time, we report a neonate with isovaleric acidemia, whose plasma ammonia concentration dropped dramatically after one oral load of carglumic acid. This experience suggests that carglumic acid could be considered for acute hyperammonemia resulting from isovaleric acidemia. However, trials with more patients are needed.
Cigdem Seher Kasapkara; Fatih Suheyl Ezgu; Ilyas Okur; Leyla Tumer; Gursel Biberoglu; Alev Hasanoglu
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-5
Journal Detail:
Title:  European journal of pediatrics     Volume:  -     ISSN:  1432-1076     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Pediatric Nutrition and Metabolism, Gazi University Medical School, Besevler, Ankara, 06500, Turkey,
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