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.
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.
authors.forename: John
authors.initials: J
authors.lastname: Schreiber
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Chapman
authors.forename: Marshall L
authors.initials: ML
authors.lastname: Summar
authors.forename: Nicholas
authors.initials: N
authors.lastname: Ah Mew
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
authors.forename: Erin
authors.initials: E
authors.lastname: MacLeod
authors.forename: Kathy
authors.initials: K
authors.lastname: Stagni
authors.forename: Keiko
authors.initials: K
authors.lastname: Ueda
authors.forename: Jill
authors.initials: J
authors.lastname: Franks
authors.forename: Eddie
authors.initials: E
authors.lastname: Island
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Loren
authors.initials: L
authors.lastname: Peña
authors.forename: Brittany
authors.initials: B
authors.lastname: Smith
authors.forename: Tiina
authors.initials: T
authors.lastname: Urv
authors.forename: Charles
authors.initials: C
authors.lastname: Venditti
authors.forename: Anupam
authors.initials: A
authors.lastname: Chakarapani
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Gropman
mesh_terms: D006287:Health Planning Guidelines; D006801:Humans; D008607:Intellectual Disability; D009420:Nervous System / Q000473:pathology* / Q000503:physiopathology; D059906:Neuroimaging; D056693:Propionic Acidemia / Q000473:pathology* / Q000503:physiopathology / Q000628:therapy; D016896:Treatment Outcome