A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset
A. Nordenström, M. Halldin, B. Hallberg & J. Alm
Journal of Inherited Metabolic Disease
The patient described in this paper has N-Acetylglutamate synthase deficiency. However, he did not initially respond to N-carbamylglutamate. Therefore, the authors recommend that conventional hyperammonemia treatment should not be delayed by a N-carbamylglutamate loading test, but that this drug should still be included in the initial treatment of patients with hyperammonemia of unknown cause.

 

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator