Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Protein Import into the Peroxisomes01:27

Protein 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...
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...
Drug Metabolism: Phase I Reactions01:17

Drug Metabolism: Phase I Reactions

A phase I reaction is a biochemical process that introduces a functionally reactive polar group to a substance. This transformation predominantly occurs in the liver, facilitated by the cytochrome P450 system of hemoproteins situated in the lipophilic endoplasmic reticulum of cells. The metabolite generated through this process can have varying polarities. If it is sufficiently polar, it can be easily excreted in the urine due to its water compatibility. However, if the metabolite is nonpolar,...
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
Peroxisomes01:24

Peroxisomes

Peroxisomes are specialized organelles present in fungi, plant, and animal cells. It can vary in number, size, morphology, and activity depending on the type of tissue and the nutritional state of the cell. For example, cells with active lipid metabolism, such as adipocytes, neurons, and hepatocytes, have more peroxisomes than other cells in the body. Besides their primary role in breaking down complex organic molecules, peroxisomes can also synthesize specific macromolecules and participate in...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The European Society of Pediatric Nephrology Board Examination-a certified benchmark of knowledge and clinical practice with global recognition.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Outcomes and Validation of Histopathological Scores in Pediatric ANCA-vasculitis.

Kidney international reports·2026
Same author

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Journal of inherited metabolic disease·2026
Same author

Kidney outcome 18-20 years after an outbreak of Shiga toxin-producing Escherichia coli infection in southwest France.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

EBioMedicine·2026
Same author

Demographics, longitudinal changes and outcome of high blood pressure in children and adolescents on kidney replacement therapy: 15 years of data from the ESPN/ERA Registry.

Pediatric nephrology (Berlin, Germany)·2026
Same journal

Point-of-Care Kidney Ultrasonography in Pediatric Nephrology: Current Evidence and Clinical Relevance.

International journal of nephrology·2026
Same journal

Renal Resistive Index in Severe Preeclampsia: Correlation With Glomerular Filtration Rate and Diagnostic Accuracy for Acute Kidney Injury.

International journal of nephrology·2026
Same journal

Chronic Kidney Disease in Urban, Adult Sri Lankans: A Cohort Follow-Up Study.

International journal of nephrology·2026
Same journal

HLA Profiles of Patients With Chronic Kidney Disease in Central South Africa.

International journal of nephrology·2026
Same journal

The Spectrum and Temporal Trends of Glomerular Diseases in Saudi Arabia: A Systematic Review of Biopsy-Based Studies.

International journal of nephrology·2026
Same journal

Chronic Kidney Disease and Superimposed Acute Kidney Injury: Greater Impact of Acute Insults on Outcomes.

International journal of nephrology·2026
See all related articles

Related Experiment Video

Updated: May 31, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

Primary hyperoxaluria.

Jérôme Harambat1, Sonia Fargue, Justine Bacchetta

  • 1Service de Pédiatrie, Centre de référence Maladies Rénales Rares du Sud-Ouest, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.

International Journal of Nephrology
|July 13, 2011
PubMed
Summary
This summary is machine-generated.

Primary hyperoxalurias (PH) are metabolic disorders causing excess oxalate. PH type 1 stems from AGT enzyme deficiency, leading to kidney stones and systemic oxalosis. Early treatment and transplantation are key.

More Related Videos

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

Related Experiment Videos

Last Updated: May 31, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Primary hyperoxalurias (PH) are inherited metabolic disorders affecting glyoxylate and oxalate metabolism.
  • PH type 1, the most common form, results from a deficiency in the liver enzyme alanine, glyoxylate aminotransferase (AGT).
  • This deficiency leads to overproduction and excessive urinary excretion of oxalate, causing recurrent kidney stones and nephrocalcinosis.

Purpose of the Study:

  • To summarize the understanding of Primary Hyperoxalurias (PH), focusing on PH type 1.
  • To outline diagnostic approaches and treatment strategies for PH.
  • To highlight the long-term management and outcomes, including transplantation.

Main Methods:

  • Review of existing literature on Primary Hyperoxalurias.
  • Analysis of diagnostic criteria including clinical findings, urinary oxalate levels, and genetic testing.
  • Evaluation of treatment outcomes for conservative management and combined liver-kidney transplantation.

Main Results:

  • Delayed diagnosis is common, often based on clinical symptoms and biochemical/genetic tests.
  • Conservative management with hydration, crystallization inhibitors, and pyridoxine can preserve renal function.
  • Combined liver-kidney transplantation offers the best outcome for end-stage renal disease patients by correcting the enzyme defect.

Conclusions:

  • PH requires timely diagnosis and management to prevent progressive renal damage and systemic oxalosis.
  • Pyridoxine responsiveness varies, and early intervention is crucial for managing PH.
  • Liver-kidney transplantation is the definitive treatment for advanced PH, addressing the underlying metabolic defect.