JOURNAL ARTICLE

Carglumic acid: new preparation. An advance in rare urea cycle disorders

(no author information available yet)
Prescrire International 2004, 13 (69): 3-4
15055204
(1) Previously, phenylbutyrate sodium was the only product marketed in France for the treatment of diseases caused by enzyme deficiencies affecting the urea cycle. By a non specific action, this drug partially prevents episodes of hyperammonaemia and their potentially severe consequences. (2) Marketing authorization has now been granted, through the European centralised procedure, for carglumic acid (N-carbamyl L-glutamic acid) as replacement therapy for N-acetylglutamate synthetase deficiency, the rarest urea cycle disorder. This enzyme is crucial for the first step of the urea cycle. (3) Thirteen of the 16 patients in the clinical evaluation dossier, who were treated before the onset of permanent sequelae due to hyperammonaemia, had normal growth and psychomotor development. The optimal dose of carglumic acid is not known. (4) No serious adverse effects have been observed, but too few patients have been treated to identify possible rare adverse effects. There are no data on the effects of carglumic acid in pregnant women. (5) In practice, carglumic acid is now the reference treatment for patients with N-acetylglutamate synthetase deficiency, despite several unknowns.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
15055204
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.