title: Natural history of propionic acidemia.
abstract: 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.
authors: University of Illinois College of Medicine at Chicago, Chicago, IL, USA. lpena@uic.edu
authors: Loren
authors: L
authors: Pena
authors: Jill
authors: J
authors: Franks
authors: Kimberly A
authors: KA
authors: Chapman
authors: Andrea
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authors: Gropman
authors: Nicholas
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authors: Ah Mew
authors: Anupam
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authors: Chakrapani
authors: Eddie
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authors: Island
authors: Erin
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authors: MacLeod
authors: Dietrich
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authors: Matern
authors: Brittany
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authors: Smith
authors: Kathy
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authors: Stagni
authors: V Reid
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authors: Sutton
authors: Keiko
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authors: Ueda
authors: Tiina
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authors: Urv
authors: Charles
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authors: Venditti
authors: Gregory M
authors: GM
authors: Enns
authors: Marshall L
authors: ML
authors: Summar
mesh_terms: D018450:Disease Progression; D056726:Genetic Association Studies; D006801:Humans; D056693:Propionic Acidemia / Q000150:complications / Q000235:genetics / Q000276:immunology / Q000473:pathology*