Molecular epidemiolojial study on maple syrup urine disease in Philippine.

• Project/Area Number: 16406031
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 海外学術
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: MATSUO Masafumi kobe University, Graduate School of Medicine, protessor, 大学院医学系研究科, 教授 (10157266)
• Co-Investigator(Kenkyū-buntansha): NISHIO Hisahide kobe University, Graduate School of Medicine, professor, 大学院医学系研究科, 教授 (80189258) ; TAKESHIMA Yasuhiro kobe University, Graduate School of Medicine, Associate professor, 大学院医学系研究科, 助教授 (40281141) ; KOSAKI Kenjiro Keio University, School of Medicine, Associate Professor, 医学部, 助教授 (30234743) ; 森沢 猛 神戸大学, 医学部附属病院, 助手 (30379375)
• Project Period (FY): 2004 – 2006
• Project Status: Completed (Fiscal Year 2006)
• Budget Amount: ¥13,300,000 (Direct Cost: ¥13,300,000); Fiscal Year 2006: ¥3,300,000 (Direct Cost: ¥3,300,000); Fiscal Year 2005: ¥3,900,000 (Direct Cost: ¥3,900,000); Fiscal Year 2004: ¥6,100,000 (Direct Cost: ¥6,100,000)
• Keywords: Philippine / maple syrup urine disease / E2 gene / neonate

Research Abstract

In the Phillipines maple syrup urine disease(MSUD) is frequently identified and is supposed to be one of the most important cause of neonatal death. In this study identification of MSUD has been conducted in the metro Manila partly by neonatal screening.
A unique deletion mutation was found to be one of the common mutation and incidence of the carrier was estimated one in every 100 people. To fascilitate mutation detection DHPLC system that analyze 4 genes at one time was established. By using this system another novel and common mutation was identified.

Research Products

• [Journal Article] Early diagnosis of maple syrup urine disease by PCR-based mutation detection (2008)
  • Author(s): CATHERINE LYNN, T.SILAO, MD, PhD, CARMENCITA D.PADILLA, MD MASAFUMI MATSUO, MD, PhD
  • Journal Title: Pediatric international (In press)
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease (2004)
  • Author(s): Catherine Lynn T.Silao
  • Journal Title: Mol Genet Metab 81 Pages: 100-104
• [Journal Article] Early diagnosis of maple syrup urine disease by PCR-based mutation detection
  • Author(s): CATHERINE, LYNN T.SILAO, MD, PhD, CARMENCITA D.PADILLA, MD, MASAFUMI MATSUO, MD, PhD
  • Journal Title: Pediatric international (In press)(印刷中)
  • Description: 「研究成果報告書概要(和文)」より