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 Experiment Videos

The porphyrias.

J R Bloomer1, H L Bonkovsky

  • 1Division of Gastroenterology and Hepatology, University of Minnesota, Minneapolis.

Disease-A-Month : DM
|January 1, 1989
PubMed
Summary
This summary is machine-generated.

Porphyrias are metabolic disorders caused by enzyme defects in heme biosynthesis, leading to porphyrin accumulation. Management focuses on biochemical correction and preventing attacks through counseling and avoiding triggers.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Givosiran to treat acute porphyria.

Drugs of today (Barcelona, Spain : 1998)·2021
Same author

Comparative analysis of portal hepatic infiltrating leucocytes in acute drug-induced liver injury, idiopathic autoimmune and viral hepatitis.

Clinical and experimental immunology·2014
Same author

Antigen-specific T lymphocyte proliferation decreases over time in advanced chronic hepatitis C.

Journal of viral hepatitis·2012
Same author

Serum proteomic profiling in patients with drug-induced liver injury.

Alimentary pharmacology & therapeutics·2012
Same author

A naturally occurring human/hepatitis E recombinant virus predominates in serum but not in faeces of a chronic hepatitis E patient and has a growth advantage in cell culture.

The Journal of general virology·2011
Same author

Association of filamin A and vimentin with hepatitis C virus proteins in infected human hepatocytes.

Journal of viral hepatitis·2011
Same journal

Disturbances due to cold.

Disease-a-month : DM·2026
Same journal

GLP-1 agonist and neuroprotection in Stroke and Parkinson's disease: A systematic review.

Disease-a-month : DM·2026
Same journal

GLP-1 receptor agonists for weight management and potential thromboembolic risk reduction in high risk population with cancer, diabetes, cardiovascular disease: A systematic review.

Disease-a-month : DM·2026
Same journal

Periodontal disease and diabetic kidney disease: A comprehensive analysis.

Disease-a-month : DM·2026
Same journal

Foreword for Glucagon-like peptide-1 receptor agonists (GLP-1) and its promise for potential benefits.

Disease-a-month : DM·2026
Same journal

Foreword for insulin autoimmune syndrome (Hirata Disease): An updated review of epidemiology, pathophysiology, clinical features, diagnosis, and management.

Disease-a-month : DM·2026
See all related articles

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Genetics

Background:

  • Porphyrias are a group of metabolic disorders characterized by excessive accumulation and excretion of porphyrins and their precursors.
  • Specific enzyme defects in heme biosynthesis define each type of porphyria, influencing biochemical abnormalities.

Purpose of the Study:

  • To elucidate the biochemical basis and clinical manifestations of porphyrias.
  • To understand the factors influencing disease expression beyond enzyme defects.
  • To outline therapeutic strategies and preventive measures for porphyria.

Main Methods:

  • Analysis of enzyme defects in heme biosynthesis pathways.
  • Correlation of biochemical abnormalities with clinical manifestations.
  • Review of therapeutic interventions, including hematin administration.

Related Experiment Videos

  • Emphasis on genetic counseling for prevention.

    • Main Results:

    • Specific enzyme defects lead to distinct biochemical profiles in porphyrias.
    • Clinical manifestations, including neurologic dysfunction and photosensitivity, are linked to porphyrin accumulation.
    • Factors beyond enzyme defects, such as increased heme biosynthesis demand, influence disease expression.
    • Intravenous hematin is effective for acute neurologic attacks.

    Conclusions:

    • Porphyrias result from specific enzyme defects in heme biosynthesis, leading to porphyrin accumulation.
    • Clinical presentation is influenced by biochemical abnormalities and other factors.
    • Therapy targets biochemical correction, with hematin crucial for acute attacks.
    • Prevention through counseling and trigger avoidance is essential for managing porphyria.