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Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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...
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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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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...
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Overview of Protein Metabolism01:21

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Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
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pH Regulation in Cells01:28

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pH plays a critical role in maintaining normal cellular activities. It helps maintain the structure and function of various proteins, dictates the charge on cellular membranes, and is crucial for metabolic reactions inside the cell. Moreover, cells use the energy from the proton motive force to generate ATP.
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Nucleic acid biosynthesis is a fundamental biochemical process that produces the purine and pyrimidine nucleotides essential for DNA and RNA synthesis. This pathway maintains a balanced nucleotide pool, preventing imbalances that could jeopardize genetic integrity and cellular function. Given the crucial role of nucleotides, their synthesis is tightly regulated to ensure proper cellular homeostasis.Purine BiosynthesisThe biosynthesis of purine nucleotides begins with ribose-5-phosphate, a...
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Updated: Apr 22, 2026

Real-Time Measurement of the Mitochondrial Bioenergetic Profile of Neutrophils
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Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.

Anja Wolf1, Giulia Montanelli1, Déborah Mathis2

  • 1Institute of Pharmacology, University of Bern, Bern, Switzerland.

Journal of Innate Immunity
|April 20, 2026
PubMed
Summary
This summary is machine-generated.

Inherited metabolic disorders (IMDs) can cause neutropenia and immunodeficiency, leading to severe infections. Understanding these links between metabolism and neutrophil function is key for diagnosis and treatment.

Keywords:
Inborn errors of metabolismInnate immunityMolecular diagnosisNeutrophil dysfunctionPathogenesisTargeted therapies

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Area of Science:

  • Immunology
  • Metabolic Disorders
  • Genetics

Background:

  • Inherited metabolic disorders (IMDs) frequently impact neutrophil development, function, and survival.
  • Neutropenia and immunodeficiency are often underrecognized but central to the clinical course of IMDs.

Purpose of the Study:

  • To review the pathophysiology, clinical presentation, and management of IMDs with significant neutrophil involvement.
  • To elucidate the mechanisms linking metabolic abnormalities to impaired innate immunity.

Main Methods:

  • Comprehensive analysis of current understanding.
  • Review of genetic and immunometabolic advances.
  • Discussion of specific IMDs: GSD-Ib, G6PC3 deficiency, G6PD deficiency, GLUT1DS1, PA, MMA, and Barth syndrome.

Main Results:

  • Impaired glucose, redox, and mitochondrial metabolism disrupt neutrophil homeostasis and function.
  • This leads to increased infection susceptibility, failure to thrive, and inflammatory complications.

Conclusions:

  • Rare IMDs highlight the crucial links between metabolism, intracellular trafficking, and innate immunity.
  • Molecular diagnosis guides targeted treatments and improves outcomes.
  • Understanding these immunometabolic disturbances advances clinical care and neutrophil biology.