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KMID : 0918520180180020055
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Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No. 2 p.55 ~ p.61
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A Case of Ornithine Transcarbamylase Deficiency in a Boy with Neonatal Seizure and Altered Mentality
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Im Min-Ji
Song A-Ri
Lee Soo-Youn
Park Hyung-Doo
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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Orinithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle with resulting hyperammonemia, which is medical emergency in newborns.We recently had a case of a boy that presented with lethargy, seizure, hyperammonemia and hypocalcemia in neonatal period. He was diagnosed with OTC deficiency by two consequent ways which are initial biochemical phenotype including hyperammonemia and an increased orotic acid in his urine and genetic analysis of the OTC gene. The OTC gene showed a novel hemizygous mutation c.913C>T (p.Pro305Ser). He was treated by low protein intake, sodium benzoate, phenylbutyrate sodium, L-arginine, and continuous renal replacement therapy (CRRT). After discharge, he has a relatively good prognosis without notable developmental delay. For good prognosis, the duration of hyperammonemia should be shorten. And it can be reached by an early diagnosis. For early detection of OTC deficiency, targeted exome sequencing will be a important role as well as biochemical tests.
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KEYWORD
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Urea cycle disease, Ornithine transcarbamylase deficiency, Hyperammonemia, Hypocalcemia
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