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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Comprehensive Review of Congenital Disorders of Glycosylation

선천성 당화 장애에 대한 전반적 고찰

  • Sukdong Yoo (Department of Pediatrics, Pusan National University School of Medicine)
  • 유석동 (부산대학교 의과대학 소아청소년과학교실)
  • Published : 2024.06.30
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Abstract

Congenital Disorders of Glycosylation (CDG) represent a complex group of inherited metabolic disorders resulting from defects in multiple pathways of glycosylation, a critical biochemical process for protein functionality and cellular communication. This review provides a comprehensive overview of CDG, including its history, epidemiology, classification, diagnostic complexities, and therapeutic developments. Despite advancements in understanding CDG and identifying over 160 subtypes, challenges remain due to the diverse clinical manifestations and multi-systemic involvement. Targeted therapy is available for only a few CDGs, but promising treatments are being investigated. Ongoing research is vital to developing targeted treatments and improving patient outcomes.

선천성 당화장애(CDG)는 당화 과정의 결함으로 인해 발생하는 다양한 유전 대사 장애 질환을 포함한다. 당화는 단백질 접힘, 안정성 및 세포 간 신호전달에 필수적인 생화학적 과정이다. CDG는 1980년대에 처음 발견된 이후로 분자생물학과 유전학의 발전에 따라 현재까지 163개의 아형이 발견되었고 트랜스페린 등전점 전기영동이 선별검사로 사용되고 있으며 유전학적 진단기법의 발달로 CDG의 진단이 확연히 늘었으며, 다양한 선천성 당화장애의 결함에 대한 진단 기법이 연구되고 있다. CDG의 치료는 주로 대증요법에 의존하며, 일부 아형에서 단당류, 망간, 우라신, 피리독신 등의 경구 보충요법과 간 이식, 조혈모세포 이식이 사용되고 있으며 약리학적 샤페론, 유전자 치료, 그리고 약물 재배치 연구가 진행되고 있다. CDG 환자들의 진단과 치료에 대한 지속적인 연구와 협력이 필요하다.

Keywords

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