Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common <i>PCCB</i> Variant

• Main Authors: Go Tajima (Author), Reiko Kagawa (Author), Fumiaki Sakura (Author), Akari Nakamura-Utsunomiya (Author), Keiichi Hara (Author), Miori Yuasa (Author), Yuki Hasegawa (Author), Hideo Sasai (Author), Satoshi Okada (Author)
• Format: Book
• Published: MDPI AG, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Propionic acidemia (PA) is a disorder of organic acid metabolism which typically presents with acute encephalopathy-like symptoms associated with metabolic acidosis and hyperammonemia during the neonatal period. The estimated incidence of symptomatic PA in Japan is 1/400,000. The introduction of neo...