Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.

ABSTRACT:

Background

Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that converts the propionyl CoA to methyl malonyl CoA. This leads to profound changes in distinct metabolic pathways, including the urea cycle, with consequences in ammonia detoxification. The implication of the tricarboxylic acid cycle is less well known, but its repercussions could explain both some of the acute and long-term symptoms of this disease.

Materials and methods

The present observational study investigates the amino acid profiles of patients with propionic acidemia being monitored at the Hospital Ramón y Cajal (Madrid, Spain), between January 2015 and September 2017, comparing periods of metabolic stability with those of dec

SUBMITTER: Stanescu S 

PROVIDER: S-EPMC9167193 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature