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

• Egile Nagusiak: Go Tajima (Egilea), Reiko Kagawa (Egilea), Fumiaki Sakura (Egilea), Akari Nakamura-Utsunomiya (Egilea), Keiichi Hara (Egilea), Miori Yuasa (Egilea), Yuki Hasegawa (Egilea), Hideo Sasai (Egilea), Satoshi Okada (Egilea)
• Formatua: Liburua
• Argitaratua: MDPI AG, 2021-06-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...