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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

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...

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Autores principales: Tajima, Go, Kagawa, Reiko, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Yuasa, Miori, Hasegawa, Yuki, Sasai, Hideo, Okada, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293189/
https://www.ncbi.nlm.nih.gov/pubmed/34203287
http://dx.doi.org/10.3390/ijns7030035
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author Tajima, Go
Kagawa, Reiko
Sakura, Fumiaki
Nakamura-Utsunomiya, Akari
Hara, Keiichi
Yuasa, Miori
Hasegawa, Yuki
Sasai, Hideo
Okada, Satoshi
author_facet Tajima, Go
Kagawa, Reiko
Sakura, Fumiaki
Nakamura-Utsunomiya, Akari
Hara, Keiichi
Yuasa, Miori
Hasegawa, Yuki
Sasai, Hideo
Okada, Satoshi
author_sort Tajima, Go
collection PubMed
description 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.
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spelling pubmed-82931892021-07-22 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 Tajima, Go Kagawa, Reiko Sakura, Fumiaki Nakamura-Utsunomiya, Akari Hara, Keiichi Yuasa, Miori Hasegawa, Yuki Sasai, Hideo Okada, Satoshi Int J Neonatal Screen Review 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. MDPI 2021-06-28 /pmc/articles/PMC8293189/ /pubmed/34203287 http://dx.doi.org/10.3390/ijns7030035 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Tajima, Go
Kagawa, Reiko
Sakura, Fumiaki
Nakamura-Utsunomiya, Akari
Hara, Keiichi
Yuasa, Miori
Hasegawa, Yuki
Sasai, Hideo
Okada, Satoshi
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293189/
https://www.ncbi.nlm.nih.gov/pubmed/34203287
http://dx.doi.org/10.3390/ijns7030035
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