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KMID : 0918520180180010023
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Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No. 1 p.23 ~ p.29
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A Case of Carbamoyl Phosphate Synthetase 1 Deficiency with a Relatively Good Prognosis Presented in the Late Neonatal Period
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Park Esther
Kim Min-Sun
Song A-Ri
Im Min-Ji
Jang Ja-Hyun
Kim Ji-Hye
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonemia. CPS1D is caused by mutations in the CPS1 gene on chromosome 2q35. Based on the age of onset, there are two phenotypes: the neonatal type and the delayed-onset type. The severity of clinical manifestation depends on the degree of CPS1 residual enzymatic activity, and can result in hyperammonemia and neurological dysfunction. We report a case of CPS1D in a neonate who developed vomiting, decreased consciousness and hyperammonemia at 25th day after birth. She showed excellent response to treatment including hydration, ammonia-lowering drugs and a low-protein diet without hemodialysis. Her growth, development and neurological outcomes were fair at the last follow-up at 17 months of age.
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KEYWORD
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Urea cycle disorder, Carbamoyl phosphate synthetase 1 deficiency, CPS1
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