Fifteen years of urea cycle disorders brain research: Looking back, looking forward.

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Tytuł:: Fifteen years of urea cycle disorders brain research: Looking back, looking forward.
Autorzy:: Sen K; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., United States.
Whitehead M; Division of Radiology, Children's National Hospital, Washington D.C., United States.
Castillo Pinto C; Division of Neurology, Children's National Hospital, Washington D.C., United States.
Caldovic L; Childrens' Research Institute, Children's National Hospital, Washington D.C., United States.
Gropman A; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., United States. Electronic address: .
Źródło:: Analytical biochemistry [Anal Biochem] 2022 Jan 01; Vol. 636, pp. 114343. Date of Electronic Publication: 2021 Oct 09.
Typ publikacji:: Historical Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
Język:: English
Imprint Name(s):: Publication: <2000- > : San Diego, CA : Elsevier
Original Publication: Orlando Fl : Academic Press
MeSH Terms:: Brain*/diagnostic imaging
Brain*/metabolism
Brain*/physiopathology
Electroencephalography*
Hyperammonemia*/diagnostic imaging
Hyperammonemia*/history
Hyperammonemia*/metabolism
Hyperammonemia*/physiopathology
Magnetic Resonance Imaging*
Proton Magnetic Resonance Spectroscopy*
Urea Cycle Disorders, Inborn*/diagnostic imaging
Urea Cycle Disorders, Inborn*/history
Urea Cycle Disorders, Inborn*/metabolism
Urea Cycle Disorders, Inborn*/physiopathology
Animals ; History, 21st Century
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Grant Information:: U54 HD061221 United States HD NICHD NIH HHS
Contributed Indexing:: Keywords: Ammonia; Brain injury; Hyperammonemia; Magnetic resonance spectroscopy; Multimodal neuroimaging; Urea cycle disorder
Entry Date(s):: Date Created: 20211012 Date Completed: 20220124 Latest Revision: 20240404
Update Code:: 20240404
PubMed Central ID:: PMC8671367
DOI:: 10.1016/j.ab.2021.114343
PMID:: 34637785
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Urea cycle disorders (UCD) are inherited diseases resulting from deficiency in one of six enzymes or two carriers that are required to remove ammonia from the body. UCD may be associated with neurological damage encompassing a spectrum from asymptomatic/mild to severe encephalopathy, which results in most cases from Hyperammonemia (HA) and elevation of other neurotoxic intermediates of metabolism. Electroencephalography (EEG), Magnetic resonance imaging (MRI) and Proton Magnetic resonance spectroscopy (MRS) are noninvasive measures of brain function and structure that can be used during HA to guide management and provide prognostic information, in addition to being research tools to understand the pathophysiology of UCD associated brain injury. The Urea Cycle Rare disorders Consortium (UCDC) has been invested in research to understand the immediate and downstream effects of hyperammonemia (HA) on brain using electroencephalogram (EEG) and multimodal brain MRI to establish early patterns of brain injury and to track recovery and prognosis. This review highlights the evolving knowledge about the impact of UCD and HA in particular on neurological injury and recovery and use of EEG and MRI to study and evaluate prognostic factors for risk and recovery. It recognizes the work of others and discusses the UCDC's prior work and future research priorities.
(Copyright © 2021 Elsevier Inc. All rights reserved.)

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