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Journal of Inherited Metabolic Disease

, Volume 35, Issue 1, pp 65–70 | Cite as

Amino acid metabolism in patients with propionic acidaemia

  • Sabine Scholl-Bürgi
  • Jörn Oliver Sass
  • Johannes Zschocke
  • Daniela Karall
Branched-Chain Amino Acids

Abstract

Propionic acidaemia (PA) is an inborn error of intermediary metabolism caused by deficiency of propionyl-CoA carboxylase. The metabolic block leads to a profound failure of central metabolic pathways, including the urea and the citric acid cycles. This review will focus on changes in amino acid metabolism in this inborn disorder of metabolism. The first noted disturbance of amino acid metabolism was hyperglycinaemia, which is detectable in nearly all PA patients. Additionally, hyperlysinaemia is a common observation. In contrast, concentrations of branched chain amino acids, especially of isoleucine, are frequently reported as decreased. These non-proportional changes of branched-chain amino acids (BCAAs) compared with aromatic amino acids are also reflected by the Fischer’s ratio (concentration ratio of BCAAs to aromatic amino acids), which is decreased in PA patients. As restricted dietary intake of valine and isoleucine as precursors of propionyl-CoA is part of the standard treatment in PA, decreased plasma concentrations of BCAAs may be a side effect of treatment. The concentration changes of the nitrogen scavenger glutamine have to be interpreted in the light of ammonia levels. In contrast to other hyperammonaemic syndromes, in PA plasma glutamine concentrations do not increase in hyperammonaemia, whereas CSF glutamine concentrations are elevated. Despite lactic acidaemia in PA patients, hyperalaninaemia is only rarely reported. The mechanisms underlying the observed changes in amino acid metabolism have not yet been elucidated, but most of the changes can be at least partly interpreted as consequence of disturbance of anaplerosis.

Keywords

Amino Acid Metabolism Citric Acid Cycle Glutamine Concentration Propionic Acidaemia Glycine Cleavage System 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

ATP

Adenosine triphosphate

BCAAs

Branched chain amino acids

CSF

Cerebrospinal fluid

CNS

Central nervous system

CoA

Coenzyme A

CSF

Cerebrospinal fluid

CPS

Carbamylphosphate synthetase

PA

Propionic acidaemia

PCC

Propionyl-CoA carboxylase

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Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Sabine Scholl-Bürgi
    • 1
  • Jörn Oliver Sass
    • 2
  • Johannes Zschocke
    • 3
  • Daniela Karall
    • 1
    • 3
  1. 1.Department of Paediatrics IV, Division of Neonatology, Neuropaediatrics and Inherited Metabolic DisordersInnsbruck Medical UniversityInnsbruckAustria
  2. 2.Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und JugendmedizinUniversitätsklinikum FreiburgFreiburgGermany
  3. 3.Division of Human GeneticsInnsbruck Medical UniversityInnsbruckAustria

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