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

• Hoofdauteurs: Go Tajima (Auteur), Reiko Kagawa (Auteur), Fumiaki Sakura (Auteur), Akari Nakamura-Utsunomiya (Auteur), Keiichi Hara (Auteur), Miori Yuasa (Auteur), Yuki Hasegawa (Auteur), Hideo Sasai (Auteur), Satoshi Okada (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2021-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...