Related Experiment Video
Updated: Jun 9, 2026
11:03
Measurement of Fatty Acid β-Oxidation in a Suspension of Freshly Isolated Mouse Hepatocytes
Published on: September 9, 2021
Pathophysiology of fatty acid oxidation disorders
1Department of Pathology & Laboratory Medicine, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bennettmi@email.chop.edu
Journal of Inherited Metabolic Disease
|September 9, 2010
Summary
Mitochondrial fatty acid oxidation is vital for energy production. This review covers fatty acid oxidation disorders, their tissue impact, and links between genetic defects and disease presentation.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Genetics
Background:
- Mitochondrial fatty acid oxidation is a key energy pathway, crucial during fasting, fever, and exercise.
- Ketone bodies, produced in the liver, fuel tissues like the brain, while muscles directly use fatty acids.
- Disorders of this pathway can lead to significant health issues.
Purpose of the Study:
- To provide an overview of the pathogenesis of fatty acid oxidation disorders.
- To detail tissue-specific involvement in these disease processes.
- To correlate disease phenotypes with specific genetic defects.
Main Methods:
- Literature review of fatty acid oxidation disorders.
- Analysis of tissue-specific manifestations.
- Correlation of genetic defects with clinical phenotypes.
Main Results:
- Fatty acid oxidation disorders affect various tissues, including the liver, brain, and muscles.
- Different genetic defects result in distinct clinical presentations and severity.
- Understanding the genotype-phenotype correlation is crucial for diagnosis and management.
Conclusions:
- Fatty acid oxidation disorders are a group of metabolic diseases with diverse clinical outcomes.
- Tissue vulnerability and the specific genetic defect determine the disease phenotype.
- Further research into genotype-phenotype correlations can improve patient care.
Related Concept Videos
01:28Overview of Fatty Acid Metabolism
Lipids also are sources of energy that power cellular processes. Like carbohydrates, lipids are composed of carbon, hydrogen, and oxygen, but these atoms are arranged differently. Most lipids are nonpolar and hydrophobic. Major types include fats and oils, waxes, phospholipids, and steroids.
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
01:24Overview of Lipid Metabolism
Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
01:20Inborn 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...
01:27Protein Import into the Peroxisomes
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
01:25Lipid Catabolism
Triglycerides serve as crucial long-term energy storage molecules in microorganisms, providing a dense source of metabolic energy. Their breakdown is mediated by lipases, which hydrolyze triglycerides into glycerol and free fatty acids. Each of these components follows distinct metabolic pathways, ultimately contributing to ATP synthesis and cellular energy homeostasis.Glycerol MetabolismGlycerol, released from triglyceride hydrolysis, is phosphorylated by glycerol kinase to form...
01:15Pyruvate Oxidation
After glycolysis, the charged pyruvate molecules enter the mitochondria via active transport and undergo three enzymatic reactions. These reactions ensure that pyruvate can enter the next metabolic pathway so that energy stored in the pyruvate molecules can be harnessed by the cells.
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...