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 Ornithine Transcarbamylase Deficiency in a Boy with Neonatal Seizure and Altered Mentality

신생아기 경련 및 의식저하를 주소로 내원한 Ornithine Transcarbamylase Deficiency 남아 1례

  • Im, Minji (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Song, Ari (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Soo-Youn (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Park, Hyung-Doo (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 임민지 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 송아리 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 이수연 (성균관대학교 의과대학 삼성서울병원 진단검사의학과) ;
  • 박형두 (성균관대학교 의과대학 삼성서울병원 진단검사의학과) ;
  • 조성윤 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 진동규 (성균관대학교 의과대학 삼성서울병원 소아청소년과)
  • Published : 2018.08.30
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Abstract

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.

OTC 결핍증은 요소 회로 대사 질환 중 가장 흔한 질환으로, X연관 유전을 하며, 고암모니아 혈증, 의식저하, 구토, 경련 등을 주증상으로 하여 나타난다. 본 증례에서는 경련 및 의식 저하로 발견된 고암모니아 혈증 및 저칼슘혈증에 대한 치료로 칼슘 보충 및 저단백섭취, sodium benzoate, phenylbutyrate sodium, L-arginine 복용 및 CRRT를 시행하여 증상을 경감시키고, 생화학적 검사 및 Targeted exome sequencing을 통하여 OTC 결핍증을 확진함으로서 신경학적 예후에 대비하도록 하였다. 이로서 현재까지 비교적 양호한 경과를 보이기에 이 증례를 보고하는 바이다.

Keywords

References

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