Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) Medication

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

Some authorities recommend oral biotin supplements in pharmacological dosage (10 mg/d) for propionyl coenzyme A (CoA) carboxylase deficiency (ie, propionic acidemia). Although no complication of biotin administration is known, even in such large doses, no good clinical evidence suggests that such treatment is effective in any patient to date.

Some authorities also advocate carnitine supplementation to help prevent acute onset of symptoms.

Due to the secondary inhibition of N-acetylglutamate synthase, use of carglumic acid to expedite normal function of the urea cycle and prevent hyperammonemia is recommended. [19]