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Related Concept Videos

Urea Cycle01:23

Urea Cycle

The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
Brain Imaging01:14

Brain Imaging

Brain imaging technologies provide critical insights into both the structure and function of the human brain, enabling medical professionals and researchers to diagnose, study, and treat neurological disorders or psychiatric disorders more effectively.
These technologies include computerized axial tomography (CAT or CT scans), positron-emission tomography (PET scans),  magnetic resonance imaging (MRI),  functional magnetic resonance imaging (fMRI), and Transcranial Magnetic Stimulation (TMS).
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Imaging Studies I: Kidney, Ureter, and Bladder Studies01:28

Imaging Studies I: Kidney, Ureter, and Bladder Studies

Kidney, Ureter, and Bladder (KUB) StudiesKidney, Ureter, and Bladder (KUB) studies are standard diagnostic imaging procedures used to assess the anatomy of the urinary system. They are commonly utilized for patients experiencing abdominal pain or urinary symptoms. By using a simple X-ray of the abdomen, KUB studies can reveal structural and pathological abnormalities within the kidneys, ureters, and bladder. These studies are particularly valuable in diagnosing kidney stones, urinary...
Imaging Studies IV: Magnetic Resonance Imaging01:27

Imaging Studies IV: Magnetic Resonance Imaging

Introduction:Magnetic Resonance Imaging, or MRI, can include a specialized imaging technique of the urinary system known as Magnetic Resonance Urography (MRU). This radiation-free technique uses strong magnetic fields and radio waves to produce detailed images with the help of a computer. MRU is particularly effective for visualizing fluid-filled structures like the kidneys, ureters, and bladder.Applications of MRI in the Genitourinary SystemKidneys and Ureters: MRI detects tumors, cysts,...

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Related Experiment Video

Updated: Jun 15, 2026

Non-invasive Imaging and Analysis of Cerebral Ischemia in Living Rats Using Positron Emission Tomography with 18F-FDG
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Brain imaging in urea cycle disorders.

Andrea Gropman1

  • 1Department of Neurology, Children's National Medical Center, Center for Neuroscience and Behavioral Medicine, Washington, DC 20010, USA. agropman@cnmc.org

Molecular Genetics and Metabolism
|March 9, 2010
PubMed
Summary

Urea cycle disorders (UCD) can cause brain damage, even in mild cases. Neuroimaging reveals altered white matter in adults with ornithine transcarbamylase deficiency (OTCD), including asymptomatic individuals.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Urea cycle disorders (UCD) are rare genetic metabolic diseases.
  • Ammonia accumulation in UCD causes significant neurological damage and mortality.
  • The impact of subclinical hyperammonemia on the brain is not well understood.

Purpose of the Study:

  • To investigate brain alterations in patients with urea cycle disorders.
  • To identify brain biomarkers of hyperammonemia in ornithine transcarbamylase deficiency (OTCD).
  • To assess the effects of UCD on cognitive and executive functions.

Main Methods:

  • Utilized neuroimaging techniques including anatomic imaging, fMRI, DTI, and MRS.
  • Studied clinically stable adults with partial OTCD.

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  • Examined brain biochemistry, cell volume, and osmolarity.

    • Main Results:

    • White matter tracts crucial for working memory and executive function are altered in OTCD patients.
    • Diffusion tensor imaging (DTI) revealed these alterations.
    • Even heterozygous women, previously considered asymptomatic, showed changes.

    Conclusions:

    • Neuroimaging can identify brain alterations in UCD, even in milder forms.
    • These findings contribute to understanding brain injury pathogenesis in UCD.
    • This research may inform strategies for managing UCD and related liver dysfunction disorders.