Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
The objective of the study is to analyze plasma amino acid concentrations in propionic acidemia (PA) for the purpose of elucidating possible correlations between propionyl-CoA carboxylase deficiency and distinct amino acid behavior. Plasma concentrations of 19 amino acids were measured in 240 random samples from 11 patients (6 families) with enzymatically and/or genetically proven propionic acidemia (sampling period, January 2001-December 2007). They were compared with reference values from the literature and correlated with age using the Pearson correlation coefficient test. Decreased plasma concentrations were observed for glutamine, histidine, threonine, valine, isoleucine, leucine, phenylalanine and arginine. Levels of glycine, alanine and aspartate were elevated, while values of serine, asparagine, ornithine and glutamate were normal. For lysine, proline and methionine a clear association was not possible. Significant correlations with age were observed for 13 amino acids (positive correlation: asparagine, glutamine, proline, alanine, histidine, threonine, methionine, arginine; negative correlation: leucine, phenylalanine, ornithine, glutamate and aspartate). This study gives new insight over long-term changes in plasma amino acid concentrations and may provide options for future therapies (e.g., substitution of anaplerotic substances) in PA patients.
Division of Neuropediatrics and Inherited Metabolic Disorders, Department of Pediatrics, Innsbruck Medical University, Anichstrasse 35, 6020, Innsbruck, Austria. sabine.scholl-buergi@uki.at
Sabine
S
Scholl-Bürgi
Jörn Oliver
JO
Sass
Peter
P
Heinz-Erian
Edda
E
Amann
Edda
E
Haberlandt
Ursula
U
Albrecht
Claudia
C
Ertl
Sara Baumgartner
SB
Sigl
Florian
F
Lagler
Kevin
K
Rostasy
Daniela
D
Karall
D000293:Adolescent; D000328:Adult; D000375:Aging / Q000097:blood*; D000596:Amino Acids / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D056693:Propionic Acidemia / Q000097:blood*
D000596:Amino Acids