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

Porphyria and its investigation

S B Rosalki1

  • 1Unilabs Clinical Pathology, London, UK.

International Journal of Clinical Practice
|October 31, 1998
PubMed
Summary
This summary is machine-generated.

Porphyrias are inherited disorders affecting haem synthesis. They are crucial to consider when diagnosing many other conditions.

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

Carbohydrate-deficient transferrin: a marker of alcohol abuse.

International journal of clinical practice·2004
Same author

Genetic haemochromatosis.

International journal of clinical practice·2002
Same author

C-reactive protein.

International journal of clinical practice·2001
Same author

Prostate-specific antigen and prostate cancer.

International journal of clinical practice·2001
Same author

Biochemical identification of alcohol abuse.

International journal of clinical practice·1999
Same author

Biochemical markers of bone turnover.

International journal of clinical practice·1998
Same journal

RETRACTION: Prediction of Arrhythmia Recurrence after Atrial Fibrillation Ablation in Patients with Normal Anatomy of the Left Atrium.

International journal of clinical practice·2025
Same journal

Clinical Outcomes Based on the Attainment of Low-Density Lipoprotein Cholesterol Targets in Patients with Acute Coronary Syndrome in Real-World Practice.

International journal of clinical practice·2025
Same journal

Knowledge and Awareness of Osteoporosis: A Survey of Physical Therapy Providers in Saudi Arabia.

International journal of clinical practice·2024
Same journal

Efficacy and Safety of Pericapsular Nerve Group Block for Hip Fracture Surgery under Spinal Anesthesia: A Meta-Analysis.

International journal of clinical practice·2024
Same journal

The Role of Pharmaceutical Innovation in Clinical Practice Guidelines for Chronic Diseases.

International journal of clinical practice·2024
Same journal

Blood Features Associated with Viral Infection Severity: An Experience from COVID-19-Pandemic Patients Hospitalized in the Center of Iran, Yazd.

International journal of clinical practice·2024
See all related articles

Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Porphyrias are a group of inherited metabolic disorders.
  • These conditions result from deficiencies in enzymes crucial for heme synthesis.
  • Heme is essential for oxygen transport and cellular respiration.

Purpose of the Study:

  • To highlight the importance of porphyrias in differential diagnosis.
  • To emphasize the diverse clinical presentations of these disorders.
  • To aid clinicians in recognizing and diagnosing porphyrias.

Main Methods:

  • Review of existing literature on porphyrias.
  • Analysis of case studies illustrating diagnostic challenges.
  • Discussion of biochemical and genetic markers.

Related Experiment Videos

Main Results:

  • Porphyrias can mimic symptoms of various neurological, psychiatric, and gastrointestinal disorders.
  • Early recognition requires awareness of specific clinical clues and biochemical testing.
  • Genetic analysis is key for definitive diagnosis and family screening.

Conclusions:

  • Porphyrias represent a significant diagnostic challenge due to their varied presentations.
  • Consideration of porphyrias in the differential diagnosis can prevent misdiagnosis and delayed treatment.
  • Integrated approaches combining clinical, biochemical, and genetic data are vital for effective management.