Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Carbamoyl Phosphate Synthetase 1 Deficiency with a Relatively Good Prognosis Presented in the Late Neonatal Period

신생아 후기에 증상을 발현하여 비교적 양호한 예후를 보이는 Carbamoyl Phosphate Synthetase 1 Deficiency 1례

  • Park, Esther (Department of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Kim, Min-sun (Department of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Song, Ari (Department of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Im, Min Ji (Department of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Jang, Ja-Hyun (Genome Research Center, Green Cross Genome) ;
  • Kim, Ji Hye (Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Sungkyunkwan University School of Medicine)
  • 박에스더 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 김민선 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 송아리 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 임민지 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 장자현 (녹십자 지놈) ;
  • 김지혜 (성균관대학교 의과대학 삼성서울병원 영상의학과) ;
  • 조성윤 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 진동규 (성균관대학교 의과대학 삼성서울병원 소아청소년과)
  • Published : 2018.04.30
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Abstract

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.

Carbamoyl phosphate synthetase 1 (CPS1) 결핍은 고암모니아혈증을 특징으로 하는 요소 회로 이상 질환 중 하나로 상염색체 열성으로 유전되며 2q35 염색체에 존재하는 CPS1 유전자 변이로 인해 발생된다. CPS1 결핍은 발병 연령에 따라 신생아형과 신생아기 이후에 발생하는 지연형으로 나뉜다. CPS1 결핍의 임상 양상의 중증도는 주로 효소 활성 결핍의 정도에 따라 다를 수 있으며, 고암모니아혈증으로 신경 기능 이상 및 장애를 초래하게 된다. 본 증례는 생후 25일 즈음 구토, 의식 저하, 고암모니아혈증을 보여 시행한 생화학적, 분자유전학적 검사(targeted gene panel sequencing)를 통해 CPS1 결핍을 진단하였다. 수액 치료, 관장, 소듐 벤조에이트 치료로 고암모니아혈증 및 임상 양상 호전 보여 응급 투석을 시행하지 않았으며 생후 17개월까지 관찰한 결과 고암모니아혈증의 재발없이 성장과 발달 및 신경학적 예후가 좋음을 보고하는 바이다.

Keywords

References

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