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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Propionyl coenzyme A carboxylase (PCC) is involved in the catabolic pathway whereby specific amino acids (isoleucine, valine, methionine and threonione), odd chain fatty acids and gut derived propionic acid are converted into succincyl-CoA for incorporation into the Kreb's cycle.

At times of metabolic stress (such as in the first few days of life) proteolysis is increased.

Where PCC is deficient this leads to build up of the enzyme's substrate, propionic acid. The resulting metabolic acidosis triggers glycogenolysis and beta oxidation of fatty acids resulting in ketosis and a further worsening of the acidosis.

While propionic acidaemia is itself not a urea cycle defect, the increased levels of organic acids inhibit the urea cycle enzyme N -acetylglutamate synthase (NAGS). This inhibition results in hyperammonaemia.

Reference


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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