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A Case of Ornithine Transcarbamylase Deficiency in 11-month-old Female who Presented Periodic Vomiting and Intermittent Consciousness Change  

Kim, Jin Ah (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Kim, Jin Sup (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Huh, Rimm (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Jin, Dong Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.3, 2015 , pp. 165-170 More about this Journal
Abstract
Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder of urea synthesis in newborns. It is the most common urea cycle disorder and leads to elevated levels of ammonia in the blood. Excessive ammonia can cause various symptoms, including vomiting, lethargy, and coma. Boys have a more serious form of OTC deficiency than girls. If not treated immediately, severe OTC deficiency can lead to neurologic abnormalities, hyperammonemic coma, and death. Because late-onset OTC deficiency, which is more common in girls, presents mild symptoms, it is easy to miss diagnosis and prompt treatment. We describe an 11-month-old girl who presented periodic vomiting, intermittent lethargy, and seizure. She was diagnosed with OTC deficiency by elevated serum ammonia and urine orotic acid levels. Genetic analysis of the OTC gene revealed a missense mutation in exon 5 (c.418G>C). We reported an experience of exact diagnosis and successful treatment of late-onset OTC deficiency in our patient.
Keywords
Ornithine transcarbamylase (OTC) deficiency; Late-onset OTC deficiency; Missense mutation;
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