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

Access to Document

10.1016/j.ymgme.2011.10.003

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

@article{b7f7ef8ae0ca4185a01ce2030168fed1,

title = "Neurologic considerations in propionic acidemia",

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.",

keywords = "Inborn error of metabolism, Neuroimaging, Neurological, Propionic acidemia, Seizure, Spectroscopy",

author = "John Schreiber and Chapman, {Kimberly A.} and Summar, {Marshall L.} and Mew, {Nicholas Ah} and Sutton, {V. Reid} and Erin MacLeod and Kathy Stagni and Keiko Ueda and Jill Franks and Eddie Island and Dietrich Matern and Loren Pe{\~n}a and Brittany Smith and Tiina Urv and Charles Venditti and Anupam Chakarapani and Gropman, {Andrea L.}",

year = "2012",

month = jan,

doi = "10.1016/j.ymgme.2011.10.003",

language = "English (US)",

volume = "105",

pages = "10--15",

journal = "Molecular genetics and metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "1",

}

TY - JOUR

T1 - Neurologic considerations in propionic acidemia

AU - Schreiber, John

AU - Chapman, Kimberly A.

AU - Summar, Marshall L.

AU - Mew, Nicholas Ah

AU - Sutton, V. Reid

AU - MacLeod, Erin

AU - Stagni, Kathy

AU - Ueda, Keiko

AU - Franks, Jill

AU - Island, Eddie

AU - Matern, Dietrich

AU - Peña, Loren

AU - Smith, Brittany

AU - Urv, Tiina

AU - Venditti, Charles

AU - Chakarapani, Anupam

AU - Gropman, Andrea L.

PY - 2012/1

Y1 - 2012/1

N2 - 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.

AB - 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.

KW - Inborn error of metabolism

KW - Neuroimaging

KW - Neurological

KW - Propionic acidemia

KW - Seizure

KW - Spectroscopy

UR - http://www.scopus.com/inward/record.url?scp=84855358566&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84855358566&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2011.10.003

DO - 10.1016/j.ymgme.2011.10.003

M3 - Article

C2 - 22078457

AN - SCOPUS:84855358566

SN - 1096-7192

VL - 105

SP - 10

EP - 15

JO - Molecular genetics and metabolism

JF - Molecular genetics and metabolism

IS - 1

ER -

Neurologic considerations in propionic acidemia

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this