N-acetylglutamate synthetase deficiency - literature review
Introduction and Objective: N-Acetylglutamate Synthetase Deficiency (NAGSD) is a rare urea cycle disorder, primarily caused by autosomal recessive genetic mutations. Most affected individuals are homozygous for the disease-causing allele. The aim of this publication is to discuss various aspects of...
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Kazimierz Wielki University
2025-01-01
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| Series: | Journal of Education, Health and Sport |
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| Online Access: | https://apcz.umk.pl/JEHS/article/view/56888 |
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| author | Krystian Wdowiak Agnieszka Maciocha Julia Wąż Aleksandra Witas Justyna Drogoń Weronika Chachaj Natalia Szymkowiak Ewa Gardocka |
| author_facet | Krystian Wdowiak Agnieszka Maciocha Julia Wąż Aleksandra Witas Justyna Drogoń Weronika Chachaj Natalia Szymkowiak Ewa Gardocka |
| author_sort | Krystian Wdowiak |
| collection | DOAJ |
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Introduction and Objective: N-Acetylglutamate Synthetase Deficiency (NAGSD) is a rare urea cycle disorder, primarily caused by autosomal recessive genetic mutations. Most affected individuals are homozygous for the disease-causing allele. The aim of this publication is to discuss various aspects of N-acetylglutamate synthetase deficiency based on the latest literature.
Review Methods: The PubMed database was searched to find scientific articles in which the terms "N-acetylglutamate synthetase," "NAGS deficiency," or "N-acetylglutamate synthetase deficiency" appear in the title, abstract, or keywords.
Brief Description of the State of Knowledge: Symptoms of NAGSD typically appear in the neonatal period. The NAGS enzyme is essential for catalyzing the synthesis of N-acetylglutamate, an allosteric activator of carbamoylphosphate synthetase 1 (CPS1), crucial for the urea cycle. Key biochemical markers include elevated ammonia, glutamine, and alanine; decreased citrulline; and respiratory alkalosis. Hyperammonemia is the main clinical feature, manifesting as nausea, vomiting, cognitive impairment, seizures, and, in severe cases, coma or death. Genetic testing remains the cornerstone of diagnosis, enabling identification of specific mutations. Treatment involves carbamylglutamate, an NAG analog that activates CPS1.
Summary: Expanding research aims to explore novel treatments in NAGSD, dietary strategies, and the safety of current therapies during pregnancy.
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| format | Article |
| id | doaj-art-546b1a3bdd4240f4a15f0c9e8abc8797 |
| institution | Kabale University |
| issn | 2391-8306 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj-art-546b1a3bdd4240f4a15f0c9e8abc87972025-01-14T08:16:47ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062025-01-017710.12775/JEHS.2025.77.56888N-acetylglutamate synthetase deficiency - literature reviewKrystian Wdowiak0https://orcid.org/0000-0001-6579-3695Agnieszka Maciocha1https://orcid.org/0009-0008-3752-332XJulia Wąż2https://orcid.org/0009-0000-2626-538XAleksandra Witas3https://orcid.org/0000-0002-4082-2653Justyna Drogoń4https://orcid.org/0000-0002-3848-2186Weronika Chachaj5https://orcid.org/0009-0005-6346-4878Natalia Szymkowiak6https://orcid.org/0009-0007-9973-8089Ewa Gardocka7https://orcid.org/0009-0005-2677-915XMedical University of Lublin, 20-059 Lublin, PolandMedical University of Lublin, Lublin, Aleje Racławickie 1, 20-059 Lublin, PolandMedical University of Silesia, Wroclaw, wybrzeże Ludwika Pasteura 1, 50-367 Wrocław, PolandMedical University of Lublin, Lublin, Aleje Racławickie 1, 20-059 Lublin, PolandMedical University of Lublin, Lublin, Aleje Racławickie 1, 20-059 Lublin, PolandMedical University of Lublin, Lublin, Aleje Racławickie 1, 20-059 Lublin, PolandMedical University of Lublin, Lublin, Aleje Racławickie 1, 20-059 Lublin, PolandMedical University of Silesia, Wroclaw, wybrzeże Ludwika Pasteura 1, 50-367 Wrocław, Poland Introduction and Objective: N-Acetylglutamate Synthetase Deficiency (NAGSD) is a rare urea cycle disorder, primarily caused by autosomal recessive genetic mutations. Most affected individuals are homozygous for the disease-causing allele. The aim of this publication is to discuss various aspects of N-acetylglutamate synthetase deficiency based on the latest literature. Review Methods: The PubMed database was searched to find scientific articles in which the terms "N-acetylglutamate synthetase," "NAGS deficiency," or "N-acetylglutamate synthetase deficiency" appear in the title, abstract, or keywords. Brief Description of the State of Knowledge: Symptoms of NAGSD typically appear in the neonatal period. The NAGS enzyme is essential for catalyzing the synthesis of N-acetylglutamate, an allosteric activator of carbamoylphosphate synthetase 1 (CPS1), crucial for the urea cycle. Key biochemical markers include elevated ammonia, glutamine, and alanine; decreased citrulline; and respiratory alkalosis. Hyperammonemia is the main clinical feature, manifesting as nausea, vomiting, cognitive impairment, seizures, and, in severe cases, coma or death. Genetic testing remains the cornerstone of diagnosis, enabling identification of specific mutations. Treatment involves carbamylglutamate, an NAG analog that activates CPS1. Summary: Expanding research aims to explore novel treatments in NAGSD, dietary strategies, and the safety of current therapies during pregnancy. https://apcz.umk.pl/JEHS/article/view/56888N-acetylglutamate synthetaseNAGS deficiencyN-acetylglutamate synthetase deficiency |
| spellingShingle | Krystian Wdowiak Agnieszka Maciocha Julia Wąż Aleksandra Witas Justyna Drogoń Weronika Chachaj Natalia Szymkowiak Ewa Gardocka N-acetylglutamate synthetase deficiency - literature review Journal of Education, Health and Sport N-acetylglutamate synthetase NAGS deficiency N-acetylglutamate synthetase deficiency |
| title | N-acetylglutamate synthetase deficiency - literature review |
| title_full | N-acetylglutamate synthetase deficiency - literature review |
| title_fullStr | N-acetylglutamate synthetase deficiency - literature review |
| title_full_unstemmed | N-acetylglutamate synthetase deficiency - literature review |
| title_short | N-acetylglutamate synthetase deficiency - literature review |
| title_sort | n acetylglutamate synthetase deficiency literature review |
| topic | N-acetylglutamate synthetase NAGS deficiency N-acetylglutamate synthetase deficiency |
| url | https://apcz.umk.pl/JEHS/article/view/56888 |
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