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

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.9K
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,...
3.9K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

264
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...
264
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

49
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
49
Overview of Fatty Acid Metabolism01:28

Overview of Fatty Acid Metabolism

31.8K
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...
31.8K
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

178
The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
178
Export of Misfolded Proteins out of the ER01:32

Export of Misfolded Proteins out of the ER

4.0K
After folding, the ER assesses the quality of secretory and membrane proteins. The correctly folded proteins are cleared by the calnexin cycle for transport to their final destination, while misfolded proteins are held back in the ER lumen. The ER chaperones attempt to unfold and refold the misfolded proteins but sometimes fail to achieve the correct native conformation. Such terminally misfolded proteins are then exported to the cytosol by ER-associated degradation or ERAD pathway for...
4.0K

You might also read

Related Articles

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

Sort by
Same author

Q wave and non-Q wave myocardial infarction: a multivariate analysis of survival experience and clinical outcome after first diagnosis at a tertiary care hospital.

JPMA. The Journal of the Pakistan Medical Association·1999
Same author

A study of 20 SLE patients with intravenous immunoglobulin--clinical and serologic response.

Lupus·1999
Same author

Complications of traditional male circumcision.

Annals of tropical paediatrics·1999
Same author

Novel endoscopic approach for removal of a rectal foreign body.

Gastrointestinal endoscopy·1999
Same author

Estimating the true extent of cognitive decline in the old old.

Journal of the American Geriatrics Society·1999
Same author

Evidence that high-density lipoprotein cholesterol is an independent predictor of acute platelet-dependent thrombus formation.

The American journal of cardiology·1999
Same journal

Unlocking the potential of electronic health records for research purposes.

Irish medical journal·2026
Same journal

ICU Handover: A Persistent Vulnerability in Critical Care Settings.

Irish medical journal·2026
Same journal

The Sugar-Sweetened Beverage Tax (Sugar Tax): Innovation and Stasis.

Irish medical journal·2026
Same journal

Gastrointestinal trichobezoars presenting as abdominal pain and obstruction - Rapunzel syndrome.

Irish medical journal·2026
Same journal

When Sepsis Kills: A Fatal Cascade of Invasive Group A Streptococcal Sepsis.

Irish medical journal·2026
Same journal

Fulminant Thrombotic Thrombocytopenic Purpura presenting through the FAST Stroke Pathway.

Irish medical journal·2026
See all related articles

Related Experiment Video

Updated: Sep 24, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.5K

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis.

A Ahmed1, C de Buitleir1, N Elsheik1

  • 1Emergency Department, Sligo university Hospital, Sligo, Ireland.

Irish Medical Journal
|May 9, 2022
PubMed
Summary
This summary is machine-generated.

A young woman with Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) experienced rhabdomyolysis after prolonged exertion. Prompt intravenous fluid treatment led to a full recovery, highlighting the importance of timely intervention for metabolic disorders.

More Related Videos

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

37.0K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

2.7K

Related Experiment Videos

Last Updated: Sep 24, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.5K
Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

37.0K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

2.7K

Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is an inherited metabolic disorder.
  • It is an autosomal recessive condition caused by mutations in the ACADVL gene.
  • VLCAD affects fatty acid metabolism, crucial for energy production.

Observation:

  • A 20-year-old female with known VLCAD presented with generalized muscle pain after prolonged physical exertion and fasting.
  • She developed severe rhabdomyolysis, indicated by creatinine kinase levels exceeding 100,000 U/L.
  • Urinalysis revealed dark brown urine and blood, consistent with muscle breakdown.

Findings:

  • The patient's presentation was a severe manifestation of rhabdomyolysis triggered by metabolic stress in the context of VLCAD.
  • Despite the severity, her vital signs were initially normal, underscoring the importance of biochemical markers for diagnosis.
  • Treatment with intravenous fluids in a high-dependency unit was effective.

Implications:

  • This case highlights the critical role of metabolic pathways in energy homeostasis during physical stress.
  • Early diagnosis and management of VLCAD are essential to prevent life-threatening complications like rhabdomyolysis.
  • Understanding triggers and effective treatments for metabolic crises in genetic disorders is vital for patient outcomes.