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Article

Novel variants of the PCCB gene in Chinese patients with propionic acidemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2021

Yang Xiaoxuan, Li Dongyan, Tu Chaofeng, He Wenbing, Meng Lanlan, Tan Yue-Qiu, Lu Guangxiu, Du Juan, Zhang Qianjun

Abstract excerpt

BACKGROUND AND AIMS: Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by a deficiency of propionyl-CoA carboxylase and mutations in the PCCA and PCCB genes. In this study, we investigated the clinical characteristics of individuals with PA and conducted genetic analyses to provide new genetic evidence for the diagnosis of PA. MATERIALS AND METHODS: We conducted whole-exome sequencing...

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Identifiers

PMID: 33798502
DOI: 10.1016/j.cca.2021.03.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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