Pathophysiological mechanisms of complications associated with propionic acidemia.

doi:10.1016/j.pharmthera.2023.108501

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Article

Pathophysiological mechanisms of complications associated with propionic acidemia.

Pharmacology & therapeutics - 1 Sept 2023

Marchuk Hannah, Wang You, Ladd Zachary Alec, Chen Xiaoxin, Zhang Guo-Fang

Abstract excerpt

Propionic acidemia (PA) is a genetic metabolic disorder caused by mutations in the mitochondrial enzyme, propionyl-CoA carboxylase (PCC), which is responsible for converting propionyl-CoA to methylmalonyl-CoA for further metabolism in the tricarboxylic acid cycle. When this process is disrupted, propionyl-CoA and its metabolites accumulate, leading to a variety of complications including life-threatening cardiac...

Topics

Humans
Propionic Acidemia
Methylmalonyl-CoA Decarboxylase
Mutation
Energy Metabolism

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Identifiers

PMID: 37482098
DOI: 10.1016/j.pharmthera.2023.108501
PMCID: PMC10529999

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