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Article

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.

Journal of child neurology - 1 Oct 2018

AlGhamdi Afnan, Alrifai Muhammad Talal, Al Hammad Abdullah I, Al Mutairi Fuad, Alswaid Abdulrahman, Eyaid Wafaa, Alfadhel Majid

Abstract excerpt

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30014764
DOI: 10.1177/0883073818786157

Genes

PCCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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