Neurologic considerations in propionic acidemia

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

Research output: Contribution to journalArticle

43 Scopus citations

Abstract

Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities. As the PA consensus conference hosted by Children's National Medical Center progressed from January 28 to 30, 2011, it became evident that neurological complications were common and a major component of morbidity, but the role of imaging and the basis for brain pathophysiology were unclear. This paper reviews the hypothesized pathophysiology, presentation and uses the best available evidence to suggest programs for treatment, imaging, and monitoring the neurological complications of PA.

Original languageEnglish (US)
Pages (from-to)10-15
Number of pages6
JournalMolecular genetics and metabolism
Volume105
Issue number1
DOIs
StatePublished - Jan 2012

Keywords

  • Inborn error of metabolism
  • Neuroimaging
  • Neurological
  • Propionic acidemia
  • Seizure
  • Spectroscopy

ASJC Scopus subject areas

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

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  • Cite this

    Schreiber, J., Chapman, K. A., Summar, M. L., Mew, N. A., Sutton, V. R., MacLeod, E., Stagni, K., Ueda, K., Franks, J., Island, E., Matern, D., Peña, L., Smith, B., Urv, T., Venditti, C., Chakarapani, A., & Gropman, A. L. (2012). Neurologic considerations in propionic acidemia. Molecular genetics and metabolism, 105(1), 10-15. https://doi.org/10.1016/j.ymgme.2011.10.003