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

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

확장성 심근병증으로 발현된 프로피온산혈증 1례

A Case of Propionic Acidemia Presenting with Dilated Cardiomyopathy

  • 손지수 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 최윤하 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 서고훈 ((주)쓰리빌리언) ;
  • 강민지 (서울아산병원 의생명연구소 유전체단) ;
  • 이범희 (울산대학교 의과대학 서울아산병원 소아청소년과)
  • Son, Jisoo (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Choi, Yoon-Ha (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Seo, Go Hun (Division of Medical Genetics, 3billion Inc.) ;
  • Kang, Minji (Genome Research Center for Birth Defects and Genetic Diseases, Asan Institute for Life Sciences, Asan Medical Center) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 발행 : 2021.12.31
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초록

프로피온산혈증은 PCCA 및 PCCB 유전자의 돌연변이로 발생하며 대사산물의 축적으로 신생아기부터 근긴장 저하, 구토, 케톤산증, 고암모니아혈증, 경련 등이 나타나 사망에 이를 수 있고, 비교적 후기에 신경학적 증상과 함께 발현하는 경과를 보이기도 한다. 저자들은 특별한 과거력 없이 지내던 중 확장성 심근병증이 확인된 16세 남아에서 유전자 검사로 프로피온산혈증이 진단된 1례를 보고하는 바이다.

Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p.[Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.

키워드

과제정보

This work was supported by an Institute for Information and Communications Technology Promotion (IITP) grant funded by the Korean government (MSIT) (2018-0-00861, Intelligent SW Technology Development for Medical Data Analysis).

참고문헌

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