| Autor: |
Hitoshi Nakajima, Yosuke Sasaki, Tadashi Maeda, Masako Takeda, Noriko Hara, Kazushige Nakanishi, Yoshihisa Urita, Risa Hattori, Ken Miura, Tomoko Taniguchi |
| Jazyk: |
angličtina |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
Case Reports in Gastroenterology, Vol 8, Iss 3, Pp 337-345 (2014) |
| Druh dokumentu: |
article |
| ISSN: |
1662-0631 |
| DOI: |
10.1159/000369131 |
| Popis: |
Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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