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

doi:10.1016/j.ymgme.2011.09.022

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

73 Scopus citations

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.

Original language	English (US)
Pages (from-to)	5-9
Number of pages	5
Journal	Molecular genetics and metabolism
Volume	105
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2011.09.022
State	Published - Jan 2012

Keywords

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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10.1016/j.ymgme.2011.09.022

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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.",

keywords = "Cardiomyopathy, Long QT interval, Long-term complications, Organic acidemia, Pancreatitis, Propionic acidemia",

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AU - Ah Mew, Nicholas

AU - Chakrapani, Anupam

AU - Island, Eddie

AU - MacLeod, Erin

AU - Matern, Dietrich

AU - Smith, Brittany

AU - Stagni, Kathy

AU - Sutton, V. Reid

AU - Ueda, Keiko

AU - Urv, Tiina

AU - Venditti, Charles

AU - Enns, Gregory M.

AU - Summar, Marshall L.

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AB - 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.

KW - Cardiomyopathy

KW - Long QT interval

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KW - Pancreatitis

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Natural history of propionic acidemia

Abstract

Keywords

ASJC Scopus subject areas

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