Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.

doi:10.1016/j.cca.2019.12.021

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Article

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2020

Wang Handuo, Meng Lanlan, Li Wen, Du Juan, Tan Yueqiu, Gong Fei, Lu Guangxiu, Lin Ge, Zhang Qianjun

Abstract excerpt

Propionic acidemia (PA) is an inborn metabolic error characterized by the accumulation of propionic acid due to deficiency of propionyl-CoA carboxylase (PCC). In this study, we present an intractable case with PCC activity defects. Although next-generation sequencing was applied twice to test genetic defects of the patients, no pathogenic mutations of a metabolic disease gene were identified. Mutations related to...

Topics

Asian People
China
Exons
Female
Humans
Infant, Newborn
Male
Methylmalonyl-CoA Decarboxylase
Mutation
Propionic Acidemia
Real-Time Polymerase Chain Reaction
Software

Source

Open in PubMed

Identifiers

PMID: 31893529
DOI: 10.1016/j.cca.2019.12.021

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