Acute management of propionic acidemia

Kimberly A. Chapman, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, V. Reid Sutton, Tiina Urv, Charles Venditti, Anupam Chakrapani

Research output: Contribution to journalArticle

50 Scopus citations

Abstract

Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. Patients deteriorate in times of increased metabolic demand and subsequent catabolism. Metabolic decompensation can manifest with lethargy, vomiting, coma and death if not appropriately treated. On January 28-30, 2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scientists and parental group representatives to design recommendations for acute management of individuals with propionic acidemia. Although many of the recommendations are geared toward the previously undiagnosed neonate, the recommendations for a severely metabolically decompensated individual are applicable to any known patient as well. Initial management is critical for prevention of morbidity and mortality. The following manuscript provides recommendations for initial treatment and evaluation, a discussion of issues concerning transport to a metabolic center (if patient presents to a non-metabolic center), acceleration of management and preparation for discharge.

Original languageEnglish (US)
Pages (from-to)16-25
Number of pages10
JournalMolecular Genetics and Metabolism
Volume105
Issue number1
DOIs
StatePublished - Jan 1 2012

Keywords

  • Acute management
  • Inborn error of metabolism
  • Organic acidemia
  • Propionic acidemia
  • Treatment

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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    Chapman, K. A., Gropman, A., MacLeod, E., Stagni, K., Summar, M. L., Ueda, K., Mew, N. A., Franks, J., Island, E., Matern, D., Pena, L., Smith, B., Sutton, V. R., Urv, T., Venditti, C., & Chakrapani, A. (2012). Acute management of propionic acidemia. Molecular Genetics and Metabolism, 105(1), 16-25. https://doi.org/10.1016/j.ymgme.2011.09.026