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Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia

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Nutrition Management of Inherited Metabolic Diseases

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References

  1. Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. 2005 Aug 16 [Updated 2016 Dec 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022.

    Google Scholar 

  2. Shchelochkov OA, Carrillo N, Venditti C. Propionic acidemia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle: University of Washington, Seattle; 2016.

    Google Scholar 

  3. Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012;105(1):26–33.

    Article  CAS  Google Scholar 

  4. Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, et al. Acute management of propionic acidemia. Mol Genet Metab. 2012;105(1):16–25.

    Article  CAS  Google Scholar 

  5. Yannicelli S. Nutrition management of patients with inherited disorders of organic acid metabolism. In: Nutrition management of patients with inherited metabolic disorders. 1st ed. Sudbury: Jones and Bartlett; 2010.

    Google Scholar 

  6. Jurecki E, Ueda K, Frazier D, Rohr F, Thompson A, Hussa C, et al. Nutrition management guideline for propionic acidemia: an evidence- and consensus-based approach. Mol Genet Metab. 2019;126(4):341–54.

    Article  CAS  Google Scholar 

  7. Baumgartner MR, Horster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130.

    Article  Google Scholar 

  8. Bernstein L, Burns C, Drumm M, Gaughan S, Sailer-Hammons M, Baker P. Impact on isoleucine and valine supplementation when decreasing use of medical food in the nutritional management of methylmalonic acidemia. Nutrients. 2020;12(2):473.

    Article  CAS  Google Scholar 

  9. Myles JG, Manoli I, Venditti CP. Effects of medical food leucine content in the management of methylmalonic and propionic acidemias. Curr Opin Clin Nutr Metab Care. 2018;21(1):42–8.

    Article  CAS  Google Scholar 

  10. Lea D, Shchelochkov O, Cleary J, Koehly LM. Dietary management of propionic acidemia: parent caregiver perspectives and practices. JPEN J Parenter Enteral Nutr. 2019;43(3):434–7.

    Article  Google Scholar 

  11. Breastfeeding and the use of human milk. Pediatrics. 2012;129(3):e827–41.

    Google Scholar 

  12. Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis. 2008;31(3):350–60.

    Article  CAS  Google Scholar 

  13. Andersson HC, Shapira E. Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). J Pediatr. 1998;132(1):121–4.

    Article  CAS  Google Scholar 

  14. Saudubray J-M. Inborn metabolic diseases: diagnosis and treatment. 6th ed. New York: Springer; 2016. pages cm p. 281, 287.

    Google Scholar 

  15. Haberle J, Chakrapani A, Ah Mew N, Longo N. Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Orphanet J Rare Dis. 2018;13(1):219.

    Article  Google Scholar 

  16. Feillet F, Bodamer OA, Dixon MA, Sequeira S, Leonard JV. Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000;136(5):659–63.

    Article  CAS  Google Scholar 

  17. Hauser NS, Manoli I, Graf JC, Sloan J, Venditti CP. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr. 2011;93(1):47–56.

    Article  CAS  Google Scholar 

  18. Yannicelli S, Acosta PB, Velazquez A, Bock HG, Marriage B, Kurczynski TW, et al. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab. 2003;80(1–2):181–8.

    Article  CAS  Google Scholar 

  19. Al-Hassnan ZN, Boyadjiev SA, Praphanphoj V, Hamosh A, Braverman NE, Thomas GH, et al. The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia. J Inherit Metab Dis. 2003;26(1):89–91.

    Article  CAS  Google Scholar 

  20. Yannicelli S. Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia. J Inherit Metab Dis. 2006;29(2–3):281–7.

    Article  CAS  Google Scholar 

  21. Van Hove JL, Myers S, Kerckhove KV, Freehauf C, Bernstein L. Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers. Mol Genet Metab. 2009;97(1):1–3.

    Article  Google Scholar 

  22. Vara R, Turner C, Mundy H, Heaton ND, Rela M, Mieli-Vergani G, et al. Liver transplantation for propionic acidemia in children. Liver Transpl. 2011;17(6):661–7.

    Article  Google Scholar 

  23. Critelli K, McKiernan P, Vockley J, Mazariegos G, Squires RH, Soltys K, et al. Liver transplantation for propionic acidemia and methylmalonic acidemia: perioperative management and clinical outcomes. Liver Transpl. 2018;24(9):1260–70.

    Article  Google Scholar 

  24. Niemi AK, Kim IK, Krueger CE, Cowan TM, Baugh N, Farrell R, et al. Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. J Pediatr. 2015;166(6):1455–61 e1.

    Article  Google Scholar 

  25. Kasahara M, Sakamoto S, Kanazawa H, Karaki C, Kakiuchi T, Shigeta T, et al. Living-donor liver transplantation for propionic acidemia. Pediatr Transplant. 2012;16(3):230–4.

    Article  CAS  Google Scholar 

  26. Mazariegos G, Shneider B, Burton B, Fox IJ, Hadzic N, Kishnani P, et al. Liver transplantation for pediatric metabolic disease. Mol Genet Metab. 2014;111(4):418–27.

    Article  CAS  Google Scholar 

  27. Vernon HJ, Bagnasco S, Hamosh A, Sperati CJ. Chronic kidney disease in an adult with propionic acidemia. JIMD Rep. 2014;12:5–10.

    Article  CAS  Google Scholar 

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Acknowledgments

Thank you to Sandy van Calcar of Oregon Health & Science University for her contributions to this chapter’s content in the first Edition of Nutrition Management of Inherited Metabolic Diseases.

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Authors and Affiliations

  1. Division of Medical Genetics, CHOC Children’s, Orange, CA, USA

    Mary Sowa

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  1. Mary Sowa
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Correspondence to Mary Sowa .

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Editors and Affiliations

  1. Children’s Hospital Colorado, University of Colorado Hospital, Aurora, CO, USA

    Laurie E. Bernstein

  2. Met Ed Co, Boulder, CO, USA

    Fran Rohr

  3. Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA

    Sandy van Calcar

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Sowa, M. (2022). Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia. In: Bernstein, L.E., Rohr, F., van Calcar, S. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-94510-7_21

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  • DOI: https://doi.org/10.1007/978-3-030-94510-7_21

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