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.

S A Sekula, J A Tschen, T Rosen

    American Family Physician
    |March 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    Porphyrias result from inherited defects in heme synthesis, leading to precursor buildup and varied symptoms. Photosensitivity in young individuals strongly suggests porphyria, with skin, teeth, and eye signs aiding diagnosis.

    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

    ForMAX - a beamline for multiscale and multimodal structural characterization of hierarchical materials.

    Journal of synchrotron radiation·2024
    Same author

    Evaluation of classic and novel ultrasound signs of placenta accreta spectrum.

    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2021
    Same author

    Assessing resilience of healthcare infrastructure exposed to COVID-19: emerging risks, resilience indicators, interdependencies and international standards.

    Environment systems & decisions·2020
    Same author

    Somatic effects of AAS abuse: A 30-years follow-up study of male former power sports athletes.

    Journal of science and medicine in sport·2017
    Same author

    Numerical analysis of the angular motion of a neutrally buoyant spheroid in shear flow at small Reynolds numbers.

    Physical review. E, Statistical, nonlinear, and soft matter physics·2016
    Same author

    Effect of fluid and particle inertia on the rotation of an oblate spheroidal particle suspended in linear shear flow.

    Physical review. E, Statistical, nonlinear, and soft matter physics·2015

    Area of Science:

    • Biochemistry
    • Genetics
    • Dermatology

    Background:

    • Porphyrias are a group of genetic disorders.
    • These disorders stem from inherited defects in heme biosynthesis.
    • Each type of porphyria involves a specific enzyme deficiency.

    Purpose of the Study:

    • To explain the underlying causes of porphyrias.
    • To highlight the clinical manifestations and diagnostic clues.
    • To emphasize the importance of photosensitivity in suspecting porphyria.

    Main Methods:

    • Review of existing literature on porphyria.
    • Analysis of the biochemical pathways of heme synthesis.
    • Correlation of enzyme defects with precursor accumulation and symptoms.

    Related Experiment Videos

    Main Results:

    • Hereditary defects in heme synthesis cause porphyrias.
    • Specific enzyme deficiencies lead to the accumulation of distinct heme precursors.
    • These precursors, though qualitatively normal, cause diverse symptoms.

    Conclusions:

    • Photosensitivity is a key indicator for porphyria, particularly in younger patients.
    • Clinical examination of skin, teeth, and eyes can offer diagnostic insights.
    • Understanding enzyme defects is crucial for diagnosing and managing porphyrias.