Estimation for severity and treatment efficacy of very-long-chain acyl-CoA dehydrogenase deficiency via fatty acid loading test

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K17355
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: University of Fukui
• Principal Investigator: Sugihara Keiichi 福井大学, 学術研究院医学系部門(附属病院部), 医員 (40835766)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 脂肪酸酸化異常症 / カルニチンサイクル異常症 / 新生児マススクリーニング / アシルカルニチン分析 / 末梢血単核球 / 安定同位体標識脂肪酸

Outline of Final Research Achievements

Clinical severity of VLCAD deficiency has been difficult to predict using conventional diagnostic methods; a carbon-13-labeled fatty acid load test on peripheral blood mononuclear cells from VLCAD deficiency patients and healthy subjects, respectively, showed a significant decrease in carnitine ratio in the patient group. The value of each ratio was significantly correlated with the clinical severity score (CSS), suggesting that it can predict disease severity. Furthermore, patients with a 13C-C16/13C-C18 ratio higher than the 13C-C14/13C-C18 ratio in the U-13C-stearate load test were presumed to have significantly higher CSS and more severe disease.

Free Research Field

先天代謝異常疾患

Academic Significance and Societal Importance of the Research Achievements

本検査法がVLCAD欠損症の臨床的重症度を予測する上で有用であり、重症化リスクを有する患者の同定に使用できることが示唆された。また本測定結果をもとに、代謝発作リスクが低いと考えられる患者に対し、過剰な治療や生活制限を回避することで、より効率的な管理を行うことが期待される。