Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.

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Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.

Prescrire Int. 2008 Apr;17(94):50-1.

PubMed ID

18516804 [ View in PubMed

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Abstract

(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.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Carglumic acid	Carbamoyl-phosphate synthase [ammonia], mitochondrial	Protein	Humans	Yes	Allosteric modulator	Details