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

• Autores principales: Reiko Kagawa (Autor), Go Tajima (Autor), Takako Maeda (Autor), Fumiaki Sakura (Autor), Akari Nakamura-Utsunomiya (Autor), Keiichi Hara (Autor), Yutaka Nishimura (Autor), Miori Yuasa (Autor), Yosuke Shigematsu (Autor), Hiromi Tanaka (Autor), Saki Fujihara (Autor), Chiyoko Yoshii (Autor), Satoshi Okada (Autor)
• Formato: Libro
• Publicado: MDPI AG, 2021-07-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...