Establishment of diagnostic methods for adult-onset fatty acid metabolism disorders and elucidation of their clinical features

2019 Fiscal Year Final Research Report

• Project/Area Number: 16K09969
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Shimane University
• Principal Investigator: Hironori Kobayashi 島根大学, 学術研究院医学・看護学系, 助教 (70397868)
• Project Period (FY): 2016-04-01 – 2020-03-31
• Keywords: アシルカルニチン分析 / LC-MS/MS / タンデムマス / 脂肪酸代謝異常症 / 成人 / 臨床検査

Outline of Final Research Achievements

Fatty acid oxidation disorder (FAOD) is an inborn error of metabolism in which fatty acid beta-oxidation is impaired. The cardiac muscle, skeletal muscle, and the liver, which are highly dependent on β-oxidation for energy supply, are often affected. Although there have been few reports of adult cases of FAODs, it is thought that there are many undiagnosed cases. Acylcarnitine analysis using LC-MS/MS is useful for the diagnosis of FAODs, but conventional analytical methods had challanges with precision and reproducibility. We established a new acylcarnitine analysis method that can be used as a clinical test and validated it. We applied the new method to the screening and follow-up of adult cases of FAODs, and the clinical features of one case of VLCAD deficiency and two cases of glutaric acidemia type 2 were investigated.

Free Research Field

先天代謝異常症

Academic Significance and Societal Importance of the Research Achievements

本研究においては、効率よく脂肪酸代謝異常症をスクリーニングできる血清アシルカルニチン分析法（新AC法）を確立し、実際に脂肪酸代謝異常症の診断および臨床経過のフォローアップに使用できる事を示した。今後、小児例のみならず成人期における脂肪酸代謝異常症の成人診断例の増加が期待できる。
また、新AC法を用いて脂肪酸代謝異常症患者のスクリーニングを行った。VLCAD欠損症、グルタル酸血症2型などの成人例について経時的な経過を追うことが出来た。脂肪酸代謝異常症母体の周産期におけるアシルカルニチン値の推移などの治験が得られ、今後の診療への情報を蓄積できた。