지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
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- 학술저널
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- 2019.1
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Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities—such as hyperammonemia, metabolic acidosis, and ketosis—associated with complaints of vomiting, feeding difficulties, and hypotonia during the neonatal period. However, in rare late-onset cases, mild or vague symptoms make the diagnosis more challenging. Even though acute pancreatitis is relatively uncommon in children, it can occur in association with PA. We present the case of a 4-year-old child who was admitted owing to the complaint of recurrent pancreatitis and had not previously been diagnosed with having metabolic disease. During inpatient treatment for acute pancreatitis, convulsions occurred with concomitant hyperammonemia, metabolic acidosis, coagulopathy, and shock 1 week after the administration of total parenteral nutrition. He was diagnosed to have PA after a metabolic work-up and confirmed to have novel mutation by molecular genetic analysis. Because children with PA may have acute pancreatitis, although rare, vomiting and abdominal pain should raise a suspicion of acute pancreatitis. On the contrary, even among children who have never been diagnosed with a metabolic disease, if a child has recurrent pancreatitis, metabolic pancreatitis caused by organic acidemia should be considered.
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참고문헌 (20)
참고문헌 신청
Chapman KA / 2012 / Propionic acidemia consensus conference summary / Mol Genet Metab 105(1):3~4
Yoo HW / 2006 / Epidemiologic Research of Genetic and Metabolic Disease in Korea
Lehnert W / 1994 / Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients / Eur J Pediatr 153(7 Suppl 1):S68~S80
Sass JO / 2004 / Propionic acidemia revisited: a workshop report / Clin Pediatr (Phila) 43(9):837~843
van der Meer SB / 1996 / Clinical outcome and long-term management of 17 patients with propionic acidaemia / Eur J Pediatr 155(3):205~210
Yoo HW / 2006 / Epidemiologic Research of Genetic and Metabolic Disease in Korea
Lehnert W / 1994 / Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients / Eur J Pediatr 153(7 Suppl 1):S68~S80
Sass JO / 2004 / Propionic acidemia revisited: a workshop report / Clin Pediatr (Phila) 43(9):837~843
van der Meer SB / 1996 / Clinical outcome and long-term management of 17 patients with propionic acidaemia / Eur J Pediatr 155(3):205~210
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