Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) Treatment & Management

Updated: Feb 18, 2019
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Medical Care

Most patients with propionyl coenzyme A (CoA) carboxylase deficiency (propionic acidemia) are so ill at presentation that they have already been admitted to a hospital, which should facilitate appropriate diagnosis and early treatment.

Because the usual major metabolic precursors of propionic acid are the essential amino acids (isoleucine, valine, threonine, methionine), halt all protein ingestion and emphasize alternative sources of calories on a temporary basis.

Ketoacidosis is best treated with increased carbohydrate calories, bicarbonate replacement, and increased fluids to enhance excretion. In severely ill patients, metabolic reversal can be expedited by an insulin drip, but this should only be administered in an intensive care setting.

Reinitiate protein feeding to a level of protein no greater than 1.5 g/kg/d after the patient's condition has normalized. From this point, the patient should be under the care of a biochemical geneticist who may prescribe a special diet prior to discharge.



See the list below:

  • Biochemical geneticist

  • Nutritionist

  • Cardiologist

  • Ophthalmologist



Appropriate dietary management is the mainstay of treatment.

Several commercially produced formulas are available that provide a protein supplement without any of the 4 amino acids that result in propionate production. However, because they are all essential in humans, closely monitored quantities of isoleucine, valine, threonine, and methionine must be added. For this reason, collaboration between the biochemical geneticist and the nutritionist is imperative.



No restriction is necessary.


Further Outpatient Care

Under no circumstances should patients with propionyl coenzyme A (CoA) carboxylase deficiency (ie, propionic acidemia) be monitored without the close and frequent input of a biochemical geneticist.

Frequently assess plasma amino acid concentrations for the need to alter dietary composition and consult a nutritionist in making such changes.

Recent observations suggest a propensity for optic nerve damage in long-term survivors. Thus, at least annual follow-up by an ophthalmologist is advisable.