Acute management of propionic acidemia

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

来源：Molecular Genetics and Metabolism, 2012, 105(1): 16-25.

DOI：10.1016/j.ymgme.2011.09.026

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

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%26apos;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.

• 出版日期2012-1