• Title/Summary/Keyword: Carbamoyl phosphate synthetase I deficiency

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A Fatal Case of Neonatal Onset Carbamoyl Phosphate Synthetase I Deficiency with Homozygous CPS1 Mutation (동종 접합자 CPS1 돌연 변이를 동반한 신생아 발병형 Carbamoyl Phosphate Synthetase 1 결핍증의 치명적 사례)

  • Yun, Jung Ha;Shin, Seung Han;Ko, Jung Min;Kim, Ee-Kyung;Kim, Han-Suk
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.1
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    • pp.18-22
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    • 2018

  • Carbamoyl phosphate synthetase I (CPS1) deficiency is a rare autosomal recessive urea cycle disorder that causes hyperammonemic crisis. CPS1 is the first enzyme encoded by the CPS1 gene, which catalyzes the first step of the urea cycle. In CPS1 deficiency, ammonia, the toxic metabolite produced by the interruption of the urea cycle, is accumulated in the blood and brain, leading to hyperammonemic encephalopathy and irreversible brain damage. Here, we report a fatal case of neonatal-onset CPS1 deficiency in a 4-day-old girl presenting with recurrent seizures, who was revealed to be homozygous for c.1529delG ($p.Gly510Alafs^*5$).

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