Evaluation of acute-onset risk of MCAD deficiency found by newborn screening

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461526
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Center for Child Health and Development (2016); Hiroshima University (2014-2015)
• Principal Investigator: Tajima Go 国立研究開発法人国立成育医療研究センター, マス・スクリーニング研究室, 室長 (00432716)
• Research Collaborator: OKADA Satoshi 広島大学, 大学院医歯薬保健学研究科, 講師 ; TSUMURA Miyuki 広島大学, 大学院医歯薬保健学研究科, 研究員 ; HARA Keiichi 国立病院機構呉医療センター, 小児科, 医長
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: MCAD 欠損症 / 脂肪酸代謝異常症 / 新生児マススクリーニング / タンデムマス / 低血糖症 / 乳幼児突然死

Outline of Final Research Achievements

In order to appropriately evaluate the risk of acute metabolic failure in patients with MCAD deficiency found by newborn screening, we have constructed a database of biochemical, enzymatic, and genetic information. We newly diagnosed 27 patients in the last 3 years, and the cumulative number of our diagnosis reached 61. Most cases showed good correlation between blood marker levels and enzymatic activities in sonicated lymphocytes. There were several cases showing dissociation between these indicators, and an assay of fatty acid oxidation by cultured lymphocytes successfully proved their enzymatic defects. In addition, their variant enzymes showed poor response toward C6-CoA, while the major variant enzymes toward C8-CoA. We have to integrate biochemical, enzymatic, and genetic findings to appropriately estimate risk of acute onset harbored by newborn screening patients, which is essential to avoid catastrophic outcomes.

Free Research Field

小児科学　先天代謝異常