Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) Differential Diagnoses

  • Author: Karl S Roth, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Apr 2, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Karl S Roth, MD  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 Clinical 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, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

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 American Society of Human Genetics

Disclosure: Nothing to disclose.

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.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina School of Medicine; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Hsia YE, Scully KJ, Rosenberg LE. Defective propionate carboxylation in ketotic hyperglycinaemia. Lancet. Apr 12 1969;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. May 1969;74(5):680-90. [Medline].

  3. Hsia YE, Scully KJ, Rosenberg LE. Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia.". J Clin Invest. Jan 1971;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. Mar 2011;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. Oct 2010;33:S307-14. [Medline].

  6. 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. Jul 2009;85(7):461-5. [Medline].

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

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

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

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

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

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

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

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

  15. 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. Apr 1961;27:539-50. [Medline].

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

  17. 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. Dec 1979;64(6):1695-702. [Medline]. [Full Text].

  18. 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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