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

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

Abstract 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 con...

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Bibliographic Details
Main Authors: Lea Abou Haidar, Panayotis Pachnis, Garrett K. Gotway, Min Ni, Ralph J. DeBerardinis, Markey C. McNutt
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:JIMD Reports
Subjects:
carglumic acid
hyperammonemia
lactation
N‐acetyl glutamate synthase deficiency
pregnancy
urea cycle disorders
Online Access:https://doi.org/10.1002/jmd2.12388

Internet

https://doi.org/10.1002/jmd2.12388

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