ISSN: 1859 - 2872
Case report: Ammonia metabolism disorders not caused by cirrhosis
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Keywords
Hyperammonemia, ure cycle, citrin enzyme, urea cylce disorders
Abstract
In adults, the main reason for hyperammonemia syndrome is hepatic dysfunction. However, urea cycle disorders usually present in infants and young children with severe clinical symptoms. A few disorders not only have their onset in adults but also start with quite clinical manifestations. It can be diagnosed until presenting hyperammonemia syndrome. This is a clinical case that is similar to hepatic encephalopathy syndrome - not caused by any chronic liver diseases.
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References
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2. Hayasaka K, Numakura C (2018) Adult-onset type II citrullinemia: Current insights and therapy. The application of clinical genetics 11: 163-170.
3. Kobayashi K, Bang Lu Y, Xian Li M, Nishi I, Hsiao KJ, Choeh K, Yang Y, Hwu WL, Reichardt JK, Palmieri F, Okano Y, Saheki T (2003) Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations. Molecular genetics and metabolism 80(3): 356-359.
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7. Kyo M, Mii H, Takekita Y, Tokuhara D, Yazaki M, Nakamori Y, Kono S and Kinoshita T (2015) Case of adult-onset type II citrullinemia treated as schizophrenia for a long time. Psychiatry Clin Neurosci 69(5): 306-307.
8. Tang L, Chen L, Wang H, Dai L, Pan S (2016) Case report: An adult-onset type II citrin deficiency patient in the emergency department. Exp Ther Med 12(1): 410-414.
2. Hayasaka K, Numakura C (2018) Adult-onset type II citrullinemia: Current insights and therapy. The application of clinical genetics 11: 163-170.
3. Kobayashi K, Bang Lu Y, Xian Li M, Nishi I, Hsiao KJ, Choeh K, Yang Y, Hwu WL, Reichardt JK, Palmieri F, Okano Y, Saheki T (2003) Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations. Molecular genetics and metabolism 80(3): 356-359.
4. Hương NTM (2015) Most common SLC25A13 mutation in 695 Vietnamese patients with NICCD. Annals of Translational Medicine 3.
5. Vũ Thị Tố Uyên, Trần Thị Chi Mai (2017) Bệnh tăng Citrullin máu - kinh nghiệm từ năm bệnh nhi. Y học TP Hồ Chí Minh 21(03), tr. 32-37.
6. Arora S, Srivastava MVP, Singh MB, Goyal V, Häberle J, Gupta N, Prabhakar A, Aggarwal B, Agarwal A, Vishnu VY (2020) Adult onset type II citrullinemia--a great masquerader. QJM 113(1): 49-51.
7. Kyo M, Mii H, Takekita Y, Tokuhara D, Yazaki M, Nakamori Y, Kono S and Kinoshita T (2015) Case of adult-onset type II citrullinemia treated as schizophrenia for a long time. Psychiatry Clin Neurosci 69(5): 306-307.
8. Tang L, Chen L, Wang H, Dai L, Pan S (2016) Case report: An adult-onset type II citrin deficiency patient in the emergency department. Exp Ther Med 12(1): 410-414.
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Published
Jul 24, 2024
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How to Cite
TrangH. M., ThắngD. M., HoàiN. T., ThanhT. V., HóaN. V., DungP. T., & TùngN. L. (2024). Case report: Ammonia metabolism disorders not caused by cirrhosis. Tạp Chí Y Dược lâm sàng 108, 19(4). https://doi.org/10.52389/ydls.v19i4.2236