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Review
. 2012 Jan;105(1):16-25.
doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24.

Acute management of propionic acidemia

Kimberly A Chapman  1 , 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
Affiliations
Review

Acute management of propionic acidemia

Kimberly A Chapman et al. Mol Genet Metab. 2012 Jan.

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.

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Figures

Figure 1
Figure 1. Complete recommendations for the acute management of a suspected or known patient with PA
Figure 1
Figure 1. Complete recommendations for the acute management of a suspected or known patient with PA
Figure 2
Figure 2. Quick diagnostic pathway for Propionic acidemia used to evaluate a sick neonate or a neonate with an elevated propionylcarnitine (C3) on newborn screening
See this image and copyright information in PMC

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