Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review
Abstract Background Citrullinemia type I (CTLN1) is a rare urea cycle disorder (UCD) with few adult cases described so far. Diagnosis of late-onset CTLN1 is difficult, and delayed treatment may increase the risk of severe hyperammonemia. Pregnancy is an important risk factor for women with CTLN1. Ho...
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| Format: | Article |
| Language: | English |
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BMC
2022-12-01
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| Series: | BMC Pregnancy and Childbirth |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12884-022-05298-3 |
| _version_ | 1828086826392354816 |
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| author | Yimeng Zhou Xiaoguang Dou Chong Zhang Rong He Yang Ding |
| author_facet | Yimeng Zhou Xiaoguang Dou Chong Zhang Rong He Yang Ding |
| author_sort | Yimeng Zhou |
| collection | DOAJ |
| description | Abstract Background Citrullinemia type I (CTLN1) is a rare urea cycle disorder (UCD) with few adult cases described so far. Diagnosis of late-onset CTLN1 is difficult, and delayed treatment may increase the risk of severe hyperammonemia. Pregnancy is an important risk factor for women with CTLN1. However, the clinical manifestations of CTLN1 in a pregnant woman may be mistaken for pregnancy side effects and ultimately delay a timely diagnosis. Case presentation A 34-year-old woman developed vomiting and disturbance of consciousness after 12 weeks of gestation. A blood test showed hyperammonemia (454 μg/dL) with normal liver function tests. She fell into a deep coma, and her serum ammonia level increased to 800 μg/dL. Continuous renal replacement therapy (CRRT) was administered as a diagnostic treatment for UCD and serum ammonia. This patient’s case was complicated by co-infection; her dependents decided to withdraw life support and the patient died. She was diagnosed with CTLN1 by analyses of plasma amino acids, urinary orotic acid, and second-generation gene sequencing. Discussion and conclusion When a patient displays symptoms of emesis and disturbance of consciousness in early pregnancy, blood ammonia should be monitored, and UCD should be considered, particularly for patients with hyperammonemia in the absence of severe liver function abnormalities. |
| first_indexed | 2024-04-11T05:03:18Z |
| format | Article |
| id | doaj.art-92947d3517294e0db0e2959848363ba8 |
| institution | Directory Open Access Journal |
| issn | 1471-2393 |
| language | English |
| last_indexed | 2024-04-11T05:03:18Z |
| publishDate | 2022-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pregnancy and Childbirth |
| spelling | doaj.art-92947d3517294e0db0e2959848363ba82022-12-25T12:33:27ZengBMCBMC Pregnancy and Childbirth1471-23932022-12-012211710.1186/s12884-022-05298-3Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature reviewYimeng Zhou0Xiaoguang Dou1Chong Zhang2Rong He3Yang Ding4Department of Infectious Diseases, Shengjing Hospital of China Medical UniversityDepartment of Infectious Diseases, Shengjing Hospital of China Medical UniversityDepartment of Infectious Diseases, Shengjing Hospital of China Medical UniversityDepartment of Clinical Genetics, Shengjing Hospital of China Medical UniversityDepartment of Infectious Diseases, Shengjing Hospital of China Medical UniversityAbstract Background Citrullinemia type I (CTLN1) is a rare urea cycle disorder (UCD) with few adult cases described so far. Diagnosis of late-onset CTLN1 is difficult, and delayed treatment may increase the risk of severe hyperammonemia. Pregnancy is an important risk factor for women with CTLN1. However, the clinical manifestations of CTLN1 in a pregnant woman may be mistaken for pregnancy side effects and ultimately delay a timely diagnosis. Case presentation A 34-year-old woman developed vomiting and disturbance of consciousness after 12 weeks of gestation. A blood test showed hyperammonemia (454 μg/dL) with normal liver function tests. She fell into a deep coma, and her serum ammonia level increased to 800 μg/dL. Continuous renal replacement therapy (CRRT) was administered as a diagnostic treatment for UCD and serum ammonia. This patient’s case was complicated by co-infection; her dependents decided to withdraw life support and the patient died. She was diagnosed with CTLN1 by analyses of plasma amino acids, urinary orotic acid, and second-generation gene sequencing. Discussion and conclusion When a patient displays symptoms of emesis and disturbance of consciousness in early pregnancy, blood ammonia should be monitored, and UCD should be considered, particularly for patients with hyperammonemia in the absence of severe liver function abnormalities.https://doi.org/10.1186/s12884-022-05298-3CitrullinemiaHyperammonemiaPregnancyUrea cycle disordersCase report |
| spellingShingle | Yimeng Zhou Xiaoguang Dou Chong Zhang Rong He Yang Ding Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review BMC Pregnancy and Childbirth Citrullinemia Hyperammonemia Pregnancy Urea cycle disorders Case report |
| title | Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review |
| title_full | Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review |
| title_fullStr | Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review |
| title_full_unstemmed | Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review |
| title_short | Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review |
| title_sort | hyperammonemia in a pregnant woman with citrullinemia type i a case report and literature review |
| topic | Citrullinemia Hyperammonemia Pregnancy Urea cycle disorders Case report |
| url | https://doi.org/10.1186/s12884-022-05298-3 |
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