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

Abstract

by Go Tajima,Reiko Kagawa,Fumiaki Sakura,Akari Nakamura-Utsunomiya,Keiichi Hara,Miori Yuasa,Yuki Hasegawa,Hideo Sasai andSatoshi Okada
Int. J. Neonatal Screen. 2021, 7(3), 35; https://doi.org/10.3390/ijns7030035 - 10 Jan 2022
Cited by 5 | Viewed by 3196
Abstract
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 neonatal screening using tandem mass spectrometry has revealed a far higher disease frequency of approximately 1/45,000 live births due to a prevalent variant of c.1304T>C (p.Y435C) in PCCB, which codes β-subunit of propionyl-CoA carboxylase. Our questionnaire-based follow-up study reveals that most of these patients remain asymptomatic. However, reports on symptomatic patients exhibiting cardiac complications such as cardiomyopathy and QT prolongation have been increasing. Moreover, there were even cases in which these cardiac complications were the only symptoms related to PA. A currently ongoing study is investigating the risk of cardiac complications in patients with neonatal screening-detected PA caused by this common variant. Full article
(This article belongs to the Collection Newborn Screening in Japan)
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