Display options
Cite
Köse M, Canda E, Kagnici M, et al. A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate. Case Rep Pediatr. 2017;2017:1045031doi: 10.1155/2017/1045031.
Köse, M., Canda, E., Kagnici, M., Uçar, S. K., & Çoker, M. (2017). A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate. Case reports in pediatrics, 20171045031. https://doi.org/10.1155/2017/1045031
Köse, Melis, et al. "A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate." Case reports in pediatrics vol. 2017 (2017): 1045031. doi: https://doi.org/10.1155/2017/1045031
Köse M, Canda E, Kagnici M, Uçar SK, Çoker M. A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate. Case Rep Pediatr. 2017;2017:1045031. doi: 10.1155/2017/1045031. Epub 2017 May 15. PMID: 28589054; PMCID: PMC5447276.
Copy Download .nbib Format: NLM
Share it on

Case Rep Pediatr. 2017;2017:1045031. doi: 10.1155/2017/1045031. Epub 2017 May 15.

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate.

Case reports in pediatrics

Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker

Affiliations

  1. Pediatric Metabolism Department, Behçet Uz Children's Training and Research Hospital, Izmir, Turkey.
  2. Pediatric Metabolism Department, Ege University Medical Faculty, Izmir, Turkey.

PMID: 28589054 PMCID: PMC5447276 DOI: 10.1155/2017/1045031

Abstract

In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatment's efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease.

References

  1. J Nutr. 2006 Jan;136(1 Suppl):243S-9S - PubMed
  2. N Engl J Med. 2007 May 31;356(22):2282-92 - PubMed
  3. Hum Mol Genet. 2014 Sep 15;23(R1):R1-8 - PubMed
  4. Hum Mol Genet. 2011 Feb 15;20(4):631-40 - PubMed
  5. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85 - PubMed
  6. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9728-33 - PubMed
  7. Pediatr Res. 1985 Oct;19(10):1011-6 - PubMed
  8. Mol Genet Metab. 2014 Sep-Oct;113(1-2):131-5 - PubMed
  9. J Nutr. 2005 Jun;135(6 Suppl):1565S-70S - PubMed
  10. J Inherit Metab Dis. 2012 Jan;35(1):29-40 - PubMed

Publication Types