Posts Categorized: Treatment



Use of N-carbamylglutamate

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

  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 […]



Primary hyperoxaluria mouse model and gene therapy.

Posted by & filed under Part 15: PEROXISOMES, Treatment.

Primary hyperoxaluria mouse model and gene therapy. Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18249-54. Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. Salido EC, Li XM, Lu Y, Wang X, Santana A, Roy-Chowdhury N, Torres A, Shapiro LJ, Roy-Chowdhury J. In this important PNAS paper, the […]