Chronic management and health supervision of individuals with propionic acidemia

V. Reid Sutton, Kimberly A. Chapman, Andrea L. Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Smith, Tina Urv, Charles Venditti, Anupam Chakarapani

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy; however, there is little information about the incidence of these problems in this rare disease. Additionally, there are no clear guidelines for medical or surgical management of individuals with propionic acidemia. Through a comprehensive and systematic review of the current medical literature and survey of expert opinion, we have developed practice guidelines for the chronic management of individuals with propionic acidemia, including dietary therapy, use of medications, laboratory monitoring, chronic health supervision, use of gastrostomy tubes and liver transplantation.

Original languageEnglish (US)
Pages (from-to)26-33
Number of pages8
JournalMolecular Genetics and Metabolism
Volume105
Issue number1
DOIs
StatePublished - Jan 2012

Fingerprint

Propionic Acidemia
Health
Metabolism
Liver
Optics
Hyperammonemia
Inborn Errors Metabolism
Optic Nerve Diseases
Defects
Gastrostomy
Monitoring
Expert Testimony
Rare Diseases
Acidosis
Basal Ganglia
Cardiomyopathies
Practice Guidelines
Intellectual Disability
Pancreatitis
Liver Transplantation

Keywords

  • Chronic management
  • Health supervision
  • Organic acidemia
  • Organic aciduria
  • Propionic acidemia
  • Propionic aciduria

ASJC Scopus subject areas

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

Cite this

Sutton, V. R., Chapman, K. A., Gropman, A. L., MacLeod, E., Stagni, K., Summar, M. L., ... Chakarapani, A. (2012). Chronic management and health supervision of individuals with propionic acidemia. Molecular Genetics and Metabolism, 105(1), 26-33. https://doi.org/10.1016/j.ymgme.2011.08.034

Chronic management and health supervision of individuals with propionic acidemia. / Sutton, V. Reid; Chapman, Kimberly A.; Gropman, Andrea L.; MacLeod, Erin; Stagni, Kathy; Summar, Marshall L.; Ueda, Keiko; Mew, Nicholas Ah; Franks, Jill; Island, Eddie; Matern, Dietrich; Peña, Loren; Smith, Brittany; Urv, Tina; Venditti, Charles; Chakarapani, Anupam.

In: Molecular Genetics and Metabolism, Vol. 105, No. 1, 01.2012, p. 26-33.

Research output: Contribution to journalArticle

Sutton, VR, Chapman, KA, Gropman, AL, MacLeod, E, Stagni, K, Summar, ML, Ueda, K, Mew, NA, Franks, J, Island, E, Matern, D, Peña, L, Smith, B, Urv, T, Venditti, C & Chakarapani, A 2012, 'Chronic management and health supervision of individuals with propionic acidemia', Molecular Genetics and Metabolism, vol. 105, no. 1, pp. 26-33. https://doi.org/10.1016/j.ymgme.2011.08.034
Sutton, V. Reid ; Chapman, Kimberly A. ; Gropman, Andrea L. ; MacLeod, Erin ; Stagni, Kathy ; Summar, Marshall L. ; Ueda, Keiko ; Mew, Nicholas Ah ; Franks, Jill ; Island, Eddie ; Matern, Dietrich ; Peña, Loren ; Smith, Brittany ; Urv, Tina ; Venditti, Charles ; Chakarapani, Anupam. / Chronic management and health supervision of individuals with propionic acidemia. In: Molecular Genetics and Metabolism. 2012 ; Vol. 105, No. 1. pp. 26-33.
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