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Article

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.

BMC medical genetics - 20 Aug 2020

Wang Hai-Rong, Liu Yan-Qiu, He Xue-Lian, Sun Jun, Zeng Fan-Wei, Yan Cheng-Bin, Li Hao, Gao Shu-Yang, Yang Yun

Abstract excerpt

BACKGROUND: Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. CASE PRESENTATION: Here we report a Chinese neonate diagnosed with suspected PA based on the clinical symptoms, gas chromatography-mass spectrometry (GC/MS), and brain imaging tests. Targeted...

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Identifiers

PMID: 32819290
DOI: 10.1186/s12881-020-01102-1
PMCID: PMC7441651

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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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