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Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) Medication

  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Nov 17, 2014
 
 

Medication Summary

See the list below:

  • 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.[16]
 
 
Contributor Information and Disclosures
Author

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

References
  1. Hsia YE, Scully KJ, Rosenberg LE. Defective propionate carboxylation in ketotic hyperglycinaemia. Lancet. 1969 Apr 12. 1(7598):757-8. [Medline].

  2. Morrow G 3rd, Barness LA, Auerbach VH, et al. Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr. 1969 May. 74(5):680-90. [Medline].

  3. Hsia YE, Scully KJ, Rosenberg LE. Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia.". J Clin Invest. 1971 Jan. 50(1):127-30. [Medline]. [Full Text].

  4. Alberola TM, Bautista-Llácer R, Vendrell X, García-Mengual E, Pardo M, Vila M, et al. Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia. J Assist Reprod Genet. 2011 Mar. 28(3):211-6. [Medline]. [Full Text].

  5. Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, et al. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. J Inherit Metab Dis. 2010 Oct. 33:S307-14. [Medline].

  6. Sutton VR, Chapman KA, Gropman AL, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan. 105(1):26-33. [Medline].

  7. Lee TM, Addonizio LJ, Barshop BA, et al. Unusual presentation of propionic academia as isolated cardiomyopathy. J Inherit Metab Dis. Dec/2009. 32 suppl:S97-101. [Medline].

  8. Kakavand B, Schroeder VA, Di Sessa TG. Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol. Jan-Feb/2006. 27:160-1. [Medline].

  9. Romano S, Valayannopoulos V, Touati G, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr. Jan/2010. 156:128-34. [Medline].

  10. Bruggink JL, van Spronsen FJ, Wijnberg-Williams BJ, Bos AF. Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood. Early Hum Dev. 2009 Jul. 85(7):461-5. [Medline].

  11. Kraus JP, Spector E, Venezia S, et al. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. Jan/2012. 35:51-63. [Medline].

  12. Desviat LR, Sanchez-Alcudia R, Perez B, et al. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. Mol Genet Metab. Apr/2009. 96:171-6. [Medline].

  13. Ianchulev T, Kolin T, Moseley K, Sadun A. Optic nerve atrophy in propionic acidemia. Ophthalmology. 2003 Sep. 110(9):1850-4. [Medline].

  14. Williams ZR, Hurley PE, Altiparmak UE, et al. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. 2009 May. 147(5):929-33. [Medline].

  15. Arias C, Raimann E, Peredo P, et al. Propionic acidemia and optic neuropathy: a report of two cases. JIMD Rep. 2014. 12:1-4. [Medline]. [Full Text].

  16. Abacan M, Boneh A. Use of carglumic acid in the treatment of hyperammonemia during metabolic decompensation of patients with propionic acidemia. Mol Genet Metab. Aug/2013. 109:397-401. [Medline].

  17. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004 Sep. 114(3):889-94. [Medline].

  18. Baumgartner D, Scholl-Burgi S, Sass JO, et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr. 2007 Feb. 150(2):192-7. [Medline].

  19. Carrillo-Carrasco N, Venditti C. Propionic acidemia[Internet]. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K. Gene Reviews. Seattle, Wash: University Seattle; 2012. 1993-2013.

  20. Feliz B, Witt DR, Harris BT. Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003 Aug. 127(8):e325-8. [Medline].

  21. Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab. 2006 Jun. 88(2):123-30. [Medline].

  22. Gravel RA, Lam KF, Scully KJ, Hsia Y. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet. 1977 Jul. 29(4):378-88. [Medline].

  23. Lamhonwah AM, Gravel RA. Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group. Am J Hum Genet. 1987 Dec. 41(6):1124-31. [Medline].

  24. Meyburg J, Hoffmann GF. Liver transplantation for inborn errors of metabolism. Transplantation. 2005 Sep 27. 80(1 Suppl):S135-7. [Medline].

  25. Nyhan WL, Bordern M, Childs B. Idiopathic hyperglycinemia: a new disorder of amino acid metabolism. II. The concentrations of other amino acids in the plasma and their modification by the administration of leucine. Pediatrics. 1961 Apr. 27:539-50. [Medline].

  26. Pena L, Franks J, Chapman KA, et al. Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan. 105(1):5-9. [Medline].

  27. Perez-Cerda C, Perez B, Merinero B, et al. Prenatal diagnosis of propionic acidemia. Prenat Diagn. 2004 Dec 15. 24(12):962-4. [Medline].

  28. Saunders M, Sweetman L, Robinson B, et al. Biotin-response organic aciduria. Multiple carboxylase defects and complementation studies with propionic acidemia in cultured fibroblasts. J Clin Invest. 1979 Dec. 64(6):1695-702. [Medline]. [Full Text].

  29. Wolf B, Willard HF, Rosenberg LE. Kinetic analysis genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts. Am J Hum Genet. 1980. 32(1):16-25. [Medline].

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Urea cycle. Compounds that comprise the urea cycle are numbered sequentially, beginning with carbamyl phosphate. At the first step (1), the first waste nitrogen is incorporated into the cycle; also at this step, N-acetylglutamate exerts its regulatory control on the mediating enzyme, carbamyl phosphate synthetase (CPS). Compound 2 is citrulline, the product of condensation between carbamyl phosphate (1) and ornithine (8); the mediating enzyme is ornithine transcarbamylase. Compound 3 is aspartic acid, which is combined with citrulline to form argininosuccinic acid (4); the reaction is mediated by argininosuccinate (ASA) synthetase. Compound 5 is fumaric acid generated in the reaction that converts ASA to arginine (6), which is mediated by ASA lyase.
 
 
 
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