Article

Late-onset propionic acidemia with epilepsy due to compound heterozygous variants in the PCCB gene: a case report and literature review

2024-03-25

Abstract excerpt

<title>Abstract</title><p>Propionic acidemia is an autosomal recessively inherited metabolic disorder attributed to a mutation in the PCCA or PCCB gene resulting in a lack of propionyl coenzyme A carboxylase, which permits an abnormal accumulation of propionate and its metabolite precursors in the body. The clinical presentation and severity of propionic acidemia vary widely among patients, and late-onset propioni...

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Literature Corpus work: 66505763-9b23-5906-bef4-7426a47b2dc7
DOI: 10.21203/rs.3.rs-4120951/v1

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