Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.

N-acetyl glutamate synthase (NAGS) deficiency (OMIM #: 237310) is a rare urea cycle disorder that usually presents early in life with hyperammonemia. NAGS catalyzes the synthesis of N-acetyl glutamate (NAG) which functions as an activator of the carbamoyl phosphate synthetase-1 mediated conversion of ammonia to carbamoyl phosphate. The absence of NAG results in a proximal urea cycle disorder which can result in severe neurologic sequelae secondary to hyperammonemia and even death. Unlike the other urea cycle disorders, a specific pharmacological treatment for NAGS deficiency exists in the form of carglumic acid, an analog of NAG. Here we present a 29-year-old previously healthy female who presented with hyperammonemia and obtundation just after the birth of her first child. Exome sequencing revealed two novel variants in the

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© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

Déclaration de conflit d'intérêts

Lea Abou Haidar, Panayotis Pachnis, Garrett K. Gotway, and Min Ni declare that they have no conflict of interest. Ralph J. DeBerardinis is a founder and advisor for Atavistik Bioscience. He is also a member of the Scientific Advisory Board for Agios Pharmaceuticals and Vida Ventures. Markey C. McNutt has received honoraria from Horizon Therapeutics, Biomarin Pharmaceuticals, Eton Pharmaceuticals, Acer Therapeutics, Ultragenyx, Applied Therapeutics, Jnana Therapeutics and Bridge Bio and been a site PI for clinical trials sponsored by Aeglea Biotherapeutics, Reneo Pharmaceuticals, PTC Therapeutics, Homology Medicines, Horizon Therapeutics, and Arcturus Therapeutics.