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

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

보행장애를 주소로 4세에 진단된 프로피온산혈증

A Case of Propionic Acidemia with Gait Disturbance

  • 이정현 (울산대학교 의과대학 서울아산병원 소아과학교실) ;
  • 고정민 (울산대학교 의과대학 서울아산병원 소아과학교실) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아과학교실)
  • Lee, Jung Hyun (Department of Pediatrics, University of Ulsan College of Medicine) ;
  • Ko, Jung Min (Department of Pediatrics, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, University of Ulsan College of Medicine)
  • 발행 : 2006.07.15
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초록

Propionic acidemia is an autosomal recessive metabolic disorder caused by a defect of propionyl CoA carboxylase with resultant accumulation of toxic organic acid metabolites. This disorder is biochemically characterized by metabolic acidosis, ketoacidosis, hyperglycinemia and hyperammonemia. Clinical symptoms are very heterogeneous and present as a severe neonatal-onset or a late-onet form. We describe one case of propionic acidemia in a 4-year-old boy who has developed gait disturbance after acute metabolic decompensation.

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