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젊은 성인 여성에서 OTC유전자의 c.386+5G>A 돌연변이로 발생한 고암모니아뇌병증open accessHyperammonemic Encephalopathy Caused by the c.386+5G>A Mutation in OTC Gene in a Young Adult Woman
- Issue Date
- Feb-2024
- Publisher
- 대한신경과학회
- Keywords
- Ornithine carbamoyltransferase deficiency disease; Hyperammonemia; Urea cycle disorder
- Citation
- 대한신경과학회지, v.42, no.1, pp 62 - 65
- Pages
- 4
- Journal Title
- 대한신경과학회지
- Volume
- 42
- Number
- 1
- Start Page
- 62
- End Page
- 65
- ISSN
- 1225-7044
2288-985X
- Abstract
- 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.
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