• 대한유전성대사질환학회지
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• 제18권3호
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• pp.69-77
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• 2018

Pregnancy and delivery pose a high risk of developing metabolic decompensation in women with defects of ketone body metabolism. In this review, the available reported cases in pregnancy are summarized. It is very important to properly manage women with defects of ketone body metabolism during pregnancy, especially nausea and vomiting in the first trimester of pregnancy, and during labor and delivery. Pregnant women with deficiencies of HMG-CoA lyase or succinyl-CoA:3-ketoacid CoA transferase (SCOT) often experience metabolic decompensations with nausea and vomiting of pregnancy, often requiring hospitalization. For successful delivery and to reduce stresses, vaginal delivery with epidural anesthesia or elective cesarean delivery with epidural or spinal anesthesia are recommended for women with HMG-CoA lyase and SCOT deficiency. In beta-ketothiolase deficiency, four pregnancies in three patients had favorable outcomes without severe metabolic problems.

• 대한유전성대사질환학회지
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• 제15권3호
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• pp.147-154
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• 2015

목적: 우리나라 케톤분해이상질환군의 연령별분포, 임상양상 등을 알아보고자 본 연구를 시행하였다. 방법: 2007년 1월부터 2015년 9월 사이에 소변유기산분석을 시행하였던 2,794명의 환자 중에서 반복부하 유기산분석으로 진단된 67명의 케톤분해이상질환군환자들의 임상양상을 분석하였다. 결과: 케톤분해이상질환군 환자의 분포는 신생아기 1명, 영아기 30명, 소아기 31명, 청소년기 5명으로 나타났고, 가장 많은 주증상은 경련발작이었으며 발달지연을 동반한 경련발작, 발달지연 등이 뒤를 이었다. 결론: 우리나라의 발병빈도는 다른 나라에 비하여 높은 것으로 판단되며, 소아청소년과 의사들의 관심이 필요하다고 판단된다.

• The Korean Journal of Physiology and Pharmacology
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• 제23권1호
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• pp.37-45
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• 2019

To study the effect of nicorandil pretreatment on ketone body metabolism and Acetyl-CoA acetyltransferase (ACAT1) activity in hypoxia/reoxygenation (H/R)-induced cardiomyocytes. In our study, we applied H9c2 cardiomyocytes cell line to evaluate the cardioprotective effects of nicorandil. We detected mitochondrial viability, cellular apoptosis, reactive oxygen species (ROS) production and calcium overloading in H9c2 cells that exposed to H/R-induced cytotoxicity. Then we evaluated whether nicorandil possibly regulated ketone body, mainly ${\beta}$-hydroxybutyrate (BHB) and acetoacetate (ACAC), metabolism by regulating ACAT1 and Succinyl-CoA:3-ketoacid coenzyme A transferase 1 (OXCT1) protein and gene expressions. Nicorandil protected H9c2 cardiomyocytes against H/R-induced cytotoxicity dose-dependently by mitochondria-mediated anti-apoptosis pathway. Nicorandil significantly decreased cellular apoptotic rate and enhanced the ratio of Bcl-2/Bax expressions. Further, nicorandil decreased the production of ROS and alleviated calcium overloading in H/R-induced H9c2 cells. In crucial, nicorandil upregulated ACAT1 and OXCT1 protein expressions and either of their gene expressions, contributing to increased production of cellular BHB and ACAC. Nicorandil alleviated cardiomyocytes H/R-induced cytotoxicity through upregulating ACAT1/OXCT1 activity and ketone body metabolism, which might be a potential mechanism for emerging study of nicorandil and other $K_{ATP}$ channel openers.