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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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An Overview of Disorders Related to Peroxisomal Fatty Acid β-oxidation

과산화소체 지방산 β-산화와 연관 질환

  • Eungu Kang (Department of Pediatrics, Korea University Ansan Hospital, Korea University College of Medicine)
  • 강은구 (고려대학교 의과대학 소아청소년과)
  • Published : 2024.12.31
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Abstract

Peroxisomal β-oxidation plays a critical role in the metabolism and degradation of very-long-chain fatty acids (VLCFA), branched-chain fatty acids, and bile acid intermediates. Defects in this pathway result in a spectrum of metabolic disorders, characterized by variable phenotypes ranging from neurological impairments and liver dysfunction to systemic complications. This review explores the biochemical mechanisms underlying peroxisomal β-oxidation, highlighting key enzymes such as acyl-CoA oxidases, bifunctional proteins, and transporter proteins of the ABCD family. Disorders such as X-linked adrenoleukodystrophy (X-ALD), ABCD1-DXS1357A deletion syndrome, D-bifunctional protein (DBP) deficiency, and other related conditions are discussed in detail, focusing on their genetic basis, clinical features, and current diagnostic strategies.

과산화소체 β-산화는 매우 긴 사슬 지방산(VLCFA), 분지 사슬 지방산 및 담즙산 중간체의 대사 및 분해에 중요한 역할을 한다. 과산화소체 β-산화와 연관된 질환은 신경학적 손상, 간기능장애를 포함한 다양한 표현형을 보이는 대사장애를 초래할 수 있다. 최근 유전적 진단 기술의 발달로 인하여 과산화소체 연관의 질환에 대한 진단이 높아지고 있다. 본 종설에서는 과산화소체 β-산화의 과정을 정리해보고, 이와 연관된 질환으로 X-연관성 부신백질이영양증(X-ALD), ABCD1-DXS1357A 결손 증후군, D-이중 기능 단백질(DBP) 결핍 및 기타 관련 질환의 임상적, 생화학적, 유전적 진단과 치료에 대해 고찰하고자 한다.

Keywords

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