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NAGS catalyzes the synthesis of N\u2010acetyl glutamate (NAG) which functions as an activator of the carbamoyl phosphate synthetase\u20101 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\u2010year\u2010old 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 <jats:italic>NAGS<\/jats:italic> gene, and plasma metabolomics revealed extremely low levels of NAG. Carglumic acid treatment led to prompt resolution of her biochemical abnormalities and symptoms. She tolerated two subsequent pregnancies, 2\u2009years and 6\u2009years after her initial presentation, while taking carglumic acid, and breastfed her third child, all without complications in the mother or children. This case report emphasizes the importance of considering urea cycle disorders in previously\u2010healthy adults presenting with neurological symptoms during periods of metabolic stress, including the postpartum period. It also highlights the efficacious and safe use of carglumic acid during pregnancy and while breastfeeding.<\/jats:p>","DOI":"10.1002\/jmd2.12388","type":"journal-article","created":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T10:34:47Z","timestamp":1694082887000},"page":"403-409","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Partial N\u2010acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management"],"prefix":"10.1002","volume":"64","author":[{"given":"Lea","family":"Abou Haidar","sequence":"first","affiliation":[{"name":"Children's Medical Center Research Institute The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Howard Hughes Medical Institute The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panayotis","family":"Pachnis","sequence":"additional","affiliation":[{"name":"Children's Medical Center Research Institute The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Pediatrics The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Garrett K.","family":"Gotway","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Internal Medicine The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Ni","sequence":"additional","affiliation":[{"name":"Children's Medical Center Research Institute The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Pediatrics The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph J.","family":"DeBerardinis","sequence":"additional","affiliation":[{"name":"Children's Medical Center Research Institute The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Howard Hughes Medical Institute The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Pediatrics The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0157-8037","authenticated-orcid":false,"given":"Markey C.","family":"McNutt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Internal Medicine The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,7]]},"reference":[{"volume-title":"Physiology, Urea Cycle","year":"2022","author":"Barmore 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