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 | |
State | Published - Jan 2012 |
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Keywords
- Inborn error of metabolism
- Neuroimaging
- Neurological
- Propionic acidemia
- Seizure
- Spectroscopy
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology
- Endocrinology, Diabetes and Metabolism
Cite this
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
}
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
VL - 105
SP - 10
EP - 15
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 1
ER -