P033: Integrating clinical data, biomarkers and in vivo propionate oxidation to inform genotype-based phenotype prediction in propionic acidemia

Genetics in Medicine Open 2026 Open access

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Authors: Carolina I. Galarreta, Jennifer Sloan, Oleg A. Shchelochkov, Susan Ferry, Carol Van Ryzin, Irini Manoli, Charles P. Venditti
DOI: 10.1016/j.gimo.2026.103524
Cited by: 0

Abstract

Propionic acidemia (PA), a deficiency of propionyl-CoA carboxylase, is caused by biallelic pathogenic variants in PCCA or PCCB. The genotypic heterogeneity and compound heterozygosity make genotype-based phenotype severity predictions challenging, particularly when individuals do not harbor two loss-of-function (LOF) alleles. Improved understanding of the genotype-phenotype associations may help improve prognostication and guide selections of patients who could benefit from emerging liver-directed therapies.

Fields of Study & Subjects

Metabolism and Genetic Disorders Genomics and Rare Diseases Lysosomal Storage Disorders Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103524–103524
Publication date
1 January 2026
Language
EN