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

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 consequence...

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Bibliographic Details
Published in:Amino acids 2022-05, Vol.54 (5), p.777-786
Main Authors: Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Ruiz-Sala, Pedro, del Valle, Mercedes, Garcia, Fernando, Arrieta, Francisco, Martinez-Pardo, Mercedes
Format: Article
Language:English
Subjects:
Alanine
Amino acids
Ammonia
Analytical Chemistry
Biochemical Engineering
Biochemistry
Biomedical and Life Sciences
Detoxification
Glutamine
Hyperammonemia
Inborn errors of metabolism
Ketosis
Life Sciences
Metabolic pathways
Metabolism
Mitochondria
Neurobiology
Original
Original Article
Patients
Propionic acidemia
Propionyl-CoA carboxylase
Proteomics
Signs and symptoms
Tricarboxylic acid cycle
Ureas
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Summary: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 decompensation with ketosis and/or hyperammonemia. Results The concentrations of 19 amino acids were determined in 188 samples provided by 10 patients. We identified 40 metabolic decompensation episodes (22 only with ketosis and 18 with hyperammonemia). Plasma glutamine and alanine levels were reduced during these metabolic crises, probably indicating deficiency of anaplerosis ( p  
ISSN:0939-4451
1438-2199
DOI:10.1007/s00726-022-03128-6