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

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.0K
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...
1.0K
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

69
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
69
Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

638
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
638
Acute Pancreatitis I: Introduction01:27

Acute Pancreatitis I: Introduction

1.6K
Pancreatitis is inflammation of the pancreas, an organ located behind the stomach. It can be either acute or chronic.
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
1.6K
Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations01:19

Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations

767
The pathophysiology of Acute Coronary Syndrome [ACD] involves several key processes:The main underlying cause of ACD is atherosclerosis, a chronic inflammatory disease characterized by the buildup of lipid-laden plaques within the coronary arteries.As the atherosclerotic plaque grows in the coronary artery, it may become unstable due to the formation of a lipid-rich core and a thin fibrous cap. Inflammatory cells within the plaque, such as macrophages, secrete enzymes that degrade the...
767
Acute Pancreatitis II: Clinical Manifestations and Management01:30

Acute Pancreatitis II: Clinical Manifestations and Management

1.1K
Acute pancreatitis presents a complex medical emergency characterized by rapid onset inflammation of the pancreas, demanding timely diagnosis and management to prevent complications. The condition primarily manifests through severe upper abdominal pain that often radiates to the back. This pain intensifies following the consumption of fatty foods. Accompanying symptoms such as nausea, vomiting, abdominal distention, fever, dyspnea, cyanosis, and jaundice can vary in intensity but significantly...
1.1K

You might also read

Related Articles

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

Sort by
Same author

Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases.

Molecular genetics and metabolism reports·2026
Same author

Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX).

Molecular genetics and metabolism·2026
Same author

Liver Injury From Medications Used for Treating Inflammatory Bowel Disease: The Drug-Induced Liver Injury Network Experience.

Liver international : official journal of the International Association for the Study of the Liver·2026
Same author

Guidelines for the management of acute porphyria: recommendations from the International Porphyria Network.

The Lancet. Haematology·2026
Same author

Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.

Gastroenterology report·2026
Same author

Bitopertin shows efficacy in patients with erythropoietic protoporphyria: Results from the randomized, double-blind, placebo-controlled AURORA trial.

Journal of the American Academy of Dermatology·2025

Related Experiment Video

Updated: Apr 7, 2026

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver
09:02

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver

Published on: July 31, 2016

12.5K

Acute Porphyrias.

Siddesh Besur1, Paul Schmeltzer2, Herbert L Bonkovsky3

  • 1Advanced Hepatology and Transplantation, Carolinas HealthCare System, Charlotte, North Carolina.

The Journal of Emergency Medicine
|July 11, 2015
PubMed
Summary
This summary is machine-generated.

Acute porphyrias, including acute intermittent porphyria (AIP), are rare metabolic disorders affecting heme biosynthesis. Early diagnosis and aggressive treatment with intravenous heme are crucial for good prognosis and preventing severe complications like seizures.

Keywords:
Panhematinabdominal painacute porphyriaautosomal dominanthaem metabolism

More Related Videos

Author Spotlight: Porphyrin-Modified Beads for Use as Compensation Controls in Flow Cytometry
10:06

Author Spotlight: Porphyrin-Modified Beads for Use as Compensation Controls in Flow Cytometry

Published on: March 24, 2023

3.2K
Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ
10:05

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ

Published on: May 8, 2020

2.4K

Related Experiment Videos

Last Updated: Apr 7, 2026

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver
09:02

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver

Published on: July 31, 2016

12.5K
Author Spotlight: Porphyrin-Modified Beads for Use as Compensation Controls in Flow Cytometry
10:06

Author Spotlight: Porphyrin-Modified Beads for Use as Compensation Controls in Flow Cytometry

Published on: March 24, 2023

3.2K
Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ
10:05

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ

Published on: May 8, 2020

2.4K

Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Porphyrias are a group of eight inherited metabolic diseases.
  • They are characterized by defects in the heme biosynthesis pathway.
  • Porphyrias are broadly categorized into acute hepatic porphyrias and chronic cutaneous porphyrias.

Purpose of the Study:

  • To provide an overview of acute porphyrias, focusing on their classification, clinical presentation, diagnosis, and management.
  • To highlight the importance of early recognition and prompt treatment in improving patient outcomes.

Main Methods:

  • Review of existing literature on porphyrias.
  • Analysis of clinical characteristics and diagnostic approaches for acute porphyrias.
  • Summary of current treatment guidelines for acute porphyric attacks.

Main Results:

  • Acute hepatic porphyrias include acute intermittent porphyria (AIP), hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of delta-aminolevulinic acid (ALA) dehydratase (ALADP).
  • AIP is the most common, while ALADP is the least common.
  • Clinical presentations are nonspecific, with abdominal pain being the most frequent symptom. Seizures occur in 20-30% of acute attacks, with hyponatremia and hypomagnesemia as common risk factors.

Conclusions:

  • Diagnosis is rapidly established by measuring urinary porphobilinogen.
  • Management involves discontinuing harmful drugs and treating symptoms, with emergent intravenous heme and glucose administration crucial for acute attacks.
  • Prognosis is favorable with early diagnosis and aggressive management, as most patients are asymptomatic between attacks.