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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2023-11-01
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Series: | JIMD Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/jmd2.12388 |