Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
Mol Genet Metab
; 109(4): 397-401, 2013 Aug.
Article
em En
| MEDLINE
| ID: mdl-23791308
ABSTRACT
Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n=3) during episodes of metabolic decompensation (n=8; age range birth to 4years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19h. Carglumic acid was well tolerated with no side effects noted.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperamonemia
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Metilmalonil-CoA Descarboxilase
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Acidemia Propiônica
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Glutamatos
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article