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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.
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...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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Related Experiment Video

Updated: May 16, 2026

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data
14:27

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data

Published on: June 26, 2013

Urea cycle defects and hyperammonemia: effects on functional imaging.

Andrea L Gropman1, Morgan Prust, Andrew Breeden

  • 1Department of Neurology, Children's National Medical Center, George Washington University of Health Sciences, 111 Michigan Avenue, NW, Washington, DC 20010, USA. agropman@childrensnational.org

Metabolic Brain Disease
|November 15, 2012
PubMed
Summary
This summary is machine-generated.

Urea-cycle disorders (UCDs) cause hyperammonemia (HA), impacting the central nervous system (CNS). Advanced neuroimaging offers a promising tool for monitoring cognitive function and treatment in UCDs, particularly Ornithine Transcarbamylase deficiency (OTCD).

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Last Updated: May 16, 2026

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data
14:27

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data

Published on: June 26, 2013

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Urea-cycle disorders (UCDs) are inherited metabolic conditions causing hyperammonemia (HA).
  • Hyperammonemia significantly impacts the central nervous system (CNS), leading to astrocyte pathology and potential neurological deficits.
  • Current plasma markers for ammonia and glutamine are insufficient for assessing CNS function.

Purpose of the Study:

  • To explore the utility of multimodal neuroimaging in evaluating CNS impact in UCDs.
  • To highlight the role of neuroimaging in monitoring cognitive function and treatment efficacy.
  • To present findings in UCDs, with a specific focus on Ornithine Transcarbamylase deficiency (OTCD).

Main Methods:

  • Review of neuropathological findings in UCDs, emphasizing astrocyte morphology.
  • Analysis of neurological features associated with acute and chronic hyperammonemia.
  • Discussion of multimodal neuroimaging techniques for assessing neural networks, connectivity, and biochemistry.

Main Results:

  • Neuropathology in UCDs is characterized by altered astrocyte morphology.
  • Acute HA causes behavioral and consciousness changes; chronic HA may lead to memory and executive function impairments.
  • Multimodal neuroimaging demonstrates potential for detailed CNS investigation in metabolic disorders.

Conclusions:

  • Neuroimaging is crucial for understanding and managing the CNS consequences of UCDs.
  • Sophisticated neuroimaging techniques will play a vital role in the clinical management of metabolic diseases like OTCD.
  • Further research utilizing advanced neuroimaging is warranted to improve patient outcomes in UCDs.