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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case Report for a Korean Patient with Mucopolysaccharidosis IIIA Confirmed by Biochemical and Molecular Genetic Investigation

생화학적 검사 및 분자유전학적 검사에 의해 뮤코다당증 제3A형으로 진단된 한국인 환자의 증례 보고

  • Kim, Borahm (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Laboratory Medicine and Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sohn, Young Bae (Department of Medical Genetics, Ajou University School of Medicine) ;
  • Park, Hyung-Doo (Department of Laboratory Medicine and Genetics, 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) ;
  • Song, Junghan (Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital) ;
  • Jin, Dong-Kyu (Department of Laboratory Medicine and Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 김보람 (성균관대학교 삼성서울병원 진단검사의학과) ;
  • 조성윤 (성균관대학교 삼성서울병원 소아청소년과) ;
  • 손영배 (아주대학교병원 의학유전학과) ;
  • 박형두 (성균관대학교 삼성서울병원 진단검사의학과) ;
  • 이수연 (성균관대학교 삼성서울병원 진단검사의학과) ;
  • 송정한 (분당서울대학교병원 진단검사의학과) ;
  • 진동규 (성균관대학교 삼성서울병원 소아청소년과)
  • Published : 2015.04.25
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Abstract

Mucopolysaccharidosis (MPS) IIIA is a lysosomal storage disorder caused by abnormalities of the enzyme Heparan N-sulfatase that is required for degradation of heparan sulfate. The patient in this study was a 5 year-old boy who presented with macrocephaly and developmental delay. Urinary excretion of glycosaminoglycan was increased (26 g/moL creatinine, reference range: <7 g/moL creatinine) and a distinct band of heparan sulfate was shown in electrophoresis. Heparan N-sulfatase activity was significantly decreased in skin fibroblasts (0.2 pmoL/min/mg protein, reference range: 9-64 pmoL/min/mg protein). PCR and direct sequencing analysis of the SGSH gene showed compound heterozygous mutations: c.1040C>T (p.S347F) and c.703G>A (p.D235N). This is the first report for a Korean patient with MPS IIIA who was confirmed by biochemical investigation and molecular genetic analyses.

뮤코다당증 제3A형(Mucopolysaccharidosis IIIA, Sanfillippo syndrome type A)은 heparan sulfate 대사에 관여하는 heparan N-sulfatase의 결핍으로 유발되는 리소좀 축적 질환이다. 본 연구는 대두증과 발달 지연을 보이는 5세 환아를 대상으로 하였다. 환아 소변의 glycosaminoglycan은 26 g/moL creatinine으로 증가되어 있었고(참고치: <7 g/moL creatinine), 소변의 전기영동 검사에서는 heparan sulfate 분획이 뚜렷하게 관찰되었다. 피부 섬유아세포에서 측정한 heparan N-sulfatase 활성도는 0.2 pmol/min/mg protein으로 매우 감소되어 있었다(참고치: 9-64 pmol/min/mg protein). 중합효소연쇄반응-염기서열분석법에 의한 SGSH 유전자 검사에서는 c.1040C>T (p.S347F) 및 c.703G>A (p.D235N) 돌연변이가 각각 이형접합체 양상으로 나타났다. 이에 생화학적 검사 및 분자유전학적 검사를 통해 뮤코다당증 제3A형으로 확진된 첫 번째 한국인 사례를 보고하는 바이다.

Keywords

References

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