Propionic Acidemia - Genetic deficiency in propionyl-CoA carboxylase

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4 Terms

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Pathway Affected

Propionyl CoA, Beta oxidation odd number of fatty acids

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Description

One in 100,000 babies is born with a genetic deficiency

  • This condition prevents the metabolism of propionyl-CoA from odd-chain propionyl-CoA from odd-chain fatty acids, methyl-branched fatty acids, and certain amino acids (isoleucine, valine, threonine, and methionine). As a result, propionyl-CoA accumulates in the mitochondria, reducing coenzyme A for beta-oxidation. It is transported out via the carnitine shuttle returning to blood as propionate, leading to blood and urine acidity.

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Pathology/Symptoms

  • vomiting

  • low blood sugar

  • seizures

  • neural difficulties

  • blood and urine acidified

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Treatment

  • Carnitine

  • Antibiotics for gut

  • Biotin enzyme

  • Restrict dietary protein