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젊은 성인 여성에서 OTC유전자의 c.386+5G>A 돌연변이로 발생한 고암모니아뇌병증
Hyperammonemic Encephalopathy Caused by the c.386+5G>A Mutation in OTC Gene in a Young Adult Woman
- 추이슬;
- 구가은;
- 강유진;
- 강동욱;
- 고영준;
- 외 3명
초록
Noncirrhotic hyperammonemia as a cause of acute confusion remains diagnostic challenge.Deficiency of ornithine transcarbamylase (OTC) is the urea cycle disorder, inborn errors caused by a defect of the enzymes in the urea cycle, leading to an accumulation of ammonia mainly in newborn. There were very few cases, in which OTC deficiency result in hyperammonemia in adulthood. Herein, we report a young adult woman of hyperammonemic encephalopathy with OTC deficiency, diagnosed by high blood ammonia, glutamine and low plasma levels of citrulline. Next generation sequencing showed the c.386+5G>A mutation of the OTC gene.
키워드
Ornithine carbamoyltransferase deficiency disease; Hyperammonemia; Urea cycle disorder
- 제목
- 젊은 성인 여성에서 OTC유전자의 c.386+5G>A 돌연변이로 발생한 고암모니아뇌병증
- 제목 (타언어)
- Hyperammonemic Encephalopathy Caused by the c.386+5G>A Mutation in OTC Gene in a Young Adult Woman
- 저자
- 추이슬; 구가은; 강유진; 강동욱; 고영준; 박지영; 박찬영; 한수현
- 발행일
- 2024-02
- 저널명
- 대한신경과학회지
- 권
- 42
- 호
- 1
- 페이지
- 62 ~ 65