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KMID : 0918520180180010018
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Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No. 1 p.18 ~ p.22
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A Fatal Case of Neonatal Onset Carbamoyl Phosphate Synthetase I Deficiency with Homozygous CPS1 Mutation
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Yun Jung-Ha
Shin Seung-Han
Ko Jung-Min
Kim Ee-Kyung
Kim Han-Suk
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Abstract
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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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KEYWORD
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Carbamoyl phosphate synthetase I deficiency, Newborn, Urea cycle disorder, Hyperammonemia
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