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KMID : 0918520150150030165
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 3 p.165 ~ p.170
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A Case of Ornithine Transcarbamylase Deficiency in 11-month-old Female who Presented Periodic Vomiting and Intermittent Consciousness Change
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Kim Jin-Ah
Kim Jin-Sup
Huh Rimm
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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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.
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KEYWORD
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Ornithine transcarbamylase (OTC) deficiency, Late-onset OTC deficiency, Missense mutation
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