Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

• Main Authors: Reiko Kagawa (Author), Go Tajima (Author), Takako Maeda (Author), Fumiaki Sakura (Author), Akari Nakamura-Utsunomiya (Author), Keiichi Hara (Author), Yutaka Nishimura (Author), Miori Yuasa (Author), Yosuke Shigematsu (Author), Hiromi Tanaka (Author), Saki Fujihara (Author), Chiyoko Yoshii (Author), Satoshi Okada (Author)
• Format: Book
• Published: MDPI AG, 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway. Moreover, homocystinuria from cystathionine β-synthase deficiency is...