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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8293189 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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