Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: minor metabolic products of the citrate synthase aldol condensation reaction.

@article{vanRooyen1994UrinaryEO,
  title={Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: minor metabolic products of the citrate synthase aldol condensation reaction.},
  author={Jan‐Pierre van Rooyen and L. J. Mienie and E. Erasmus and W. J. De Wet and Marinus Dur{\'a}n and Sybe K. Wadman},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1994},
  volume={230 1},
  pages={
          91-9
        }
}

Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia

  • D. T. Loots
  • Biology, Chemistry
    Journal of Inherited Metabolic Disease
  • 2009
TLDR
These newly identified metabolites serve as additional diagnostic markers to those previously identified in IVA, but due to the structural arrangements of the (2R,3R)-methylcitric acid and 2- methyl-cis-aconitinic acid-derived 2-methylisocitric acid, inhibition of normal TCA cycle metabolism results at citrate synthase and isocitrate dehydrogenase, respectively.

Magnetic Resonance Imaging and Spectroscopy of the Brain in Propionic Acidemia: Clinical and Biochemical Considerations

TLDR
The presence of spectroscopic abnormalities in a stable metabolic condition, in particular the rise in glutamine/glutamate, indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid.

An overview of a cohort of South African patients with mitochondrial disorders

TLDR
Of the South African pediatric neurology patients, Africans are more likely to present with myopathy and CII+III deficiency, and Caucasian patients are morelikely toPresent with encephalopathy or encephalomyopathy.

Synthesis of trimethyl (2S,3R)- and (2R,3R)-[2-2H1]-homocitrates and dimethyl (2S,3R)- and (2R,3R)-[2-2H1]-homocitrate lactones-an assay for the stereochemical outcome of the reaction catalysed both by homocitrate synthase and by the Nif-V protein.

TLDR
The 1H NMR spectra of the labelled products present an assay for the stereochemistry of the biological reactions catalysed by homocitrate synthase and by the protein from the nifV gene.

References

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The variability of metabolite excretion in propionicacidaemia.

Effect of 2-Methylcitrate on Citrate Metabolism: Implications for the Management of Patients with Propionic acidemia and Methylmalonic aciduria

TLDR
Alkalinization with sodium citrate might be even more beneficial if this citrate could enter the liver and allow more rapid removal of 2-methylcitrate and methylmalonate from liver mitochondria since increased cytosolic levels of these intermediates would facilitate more rapid diffusion to the extracellular space and eventual excretion in the urine.

Disorders of propionate and methylmalonate metabolism

TLDR
The final unique stage in the metabolism of L-isoleucine involves the cleavage of 2-methylacetoacetyl-CoA to acetyl- coA and propionyl- CoA and methylmalonyl-Co a (Section 10.4).