Natural history of propionic acidemia

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

Research output: Contribution to journalArticlepeer-review

73 Scopus citations


Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent studies have identified the genomic mutations in the genes. PCCA and. PCCB. However, as of yet no clear genotype-phenotype correlations are known. As patients age, the natural progression of propionic acidemia illuminates intellectual difficulties, increased risk for neurological complications, including stroke-like episodes, cardiac complications, and gastrointestinal difficulties, as well as a number of other complications. This article reviews the available literature for the natural history of propionic acidemia.

Original languageEnglish (US)
Pages (from-to)5-9
Number of pages5
JournalMolecular genetics and metabolism
Issue number1
StatePublished - Jan 2012


  • Cardiomyopathy
  • Long QT interval
  • Long-term complications
  • Organic acidemia
  • Pancreatitis
  • Propionic acidemia

ASJC Scopus subject areas

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


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