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Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.

BMC medical genetics - 6 Apr 2020

Yang Qi, Xu Hong, Luo Jingsi, Li Mengting, Yi Sheng, Zhang Qinle, Geng Guoxing, Feng Shihan, Fan Xin

Abstract excerpt

BACKGROUND: Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA or PCCB. The present study aimed to identify the genetic cause of three Chinese patients with PA. CASE PRESENTATION: Three Chinese PA patients were diagnosed by using gas...

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Identifiers

PMID: 32252659
DOI: 10.1186/s12881-020-01008-y
PMCID: PMC7137301

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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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