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

doi:10.1016/j.ymgme.2011.10.003

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

Laboratory Medicine and Pathology

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

44 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 language	English (US)
Pages (from-to)	10-15
Number of pages	6
Journal	Molecular genetics and metabolism
Volume	105
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2011.10.003
State	Published - 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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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

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

In: Molecular genetics and metabolism, Vol. 105, No. 1, 01.2012, p. 10-15.

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

Schreiber, John ; Chapman, Kimberly A. ; Summar, Marshall L. ; Mew, Nicholas Ah ; Sutton, V. Reid ; MacLeod, Erin ; Stagni, Kathy ; Ueda, Keiko ; Franks, Jill ; Island, Eddie ; Matern, Dietrich ; Peña, Loren ; Smith, Brittany ; Urv, Tiina ; Venditti, Charles ; Chakarapani, Anupam ; Gropman, Andrea L. / Neurologic considerations in propionic acidemia. In: Molecular genetics and metabolism. 2012 ; Vol. 105, No. 1. pp. 10-15.

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Neurologic considerations in propionic acidemia

Abstract

Keywords

ASJC Scopus subject areas

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