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Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) Follow-up

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

Further Outpatient Care

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  • 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.
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Inpatient & Outpatient Medications

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  • See Medication.
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Complications

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  • In most cases, the initial presentation is severe enough to cause significant developmental delay due to brain damage.
  • The propionic acidemia may cause leukopenia and permit sepsis, which is devastating in an infant who is already sick.
  • Dietary indiscretion, intercurrent illness, and inadequate essential amino acid supplementation may precipitate a severe recurrence of the initial episode.
  • Optic nerve atrophy has been observed in male long-term survivors, as well as in at least two female patients.[14, 15]
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Prognosis

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  • Although less-severely affected patients have been reported, most individuals with propionic acidemia have a classic presentation and course and a guarded prognosis. Survival is in question, and significant brain damage is likely.
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Patient Education

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  • Parents must be taught to strictly adhere to the dietary regimen as prescribed. They also must be made aware of the importance of follow-up for adjustment of diet to meet the requirements for growth.
  • Patients must be seen as early as feasible during the course of any intercurrent illness. Treat patients with intravenous glucose and bicarbonate immediately if indicated.
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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
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  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].

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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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