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

Menkes's syndrome.

J L Maddox, R B Odom, D K Goette

    Pediatric Dermatology
    |April 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Menkes's syndrome, a genetic disorder affecting copper metabolism, causes severe neurological damage due to copper deficiency in the brain. This review details the clinical and metabolic features of this rare condition.

    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

    Safety of itraconazole pulse therapy for onychomycosis. An update.

    Postgraduate medicine·1999
    Same author

    Topical metronidazole maintains remissions of rosacea.

    Archives of dermatology·1998
    Same author

    Once-weekly fluconazole (150, 300, or 450 mg) in the treatment of distal subungual onychomycosis of the toenail.

    Journal of the American Academy of Dermatology·1998
    Same author

    Pharmacokinetics of three doses of once-weekly fluconazole (150, 300, and 450 mg) in distal subungual onychomycosis of the toenail.

    Journal of the American Academy of Dermatology·1998
    Same author

    Mycosis fungoides with onset before 20 years of age.

    Journal of the American Academy of Dermatology·1997
    Same author

    Double-blind, randomized comparison of itraconazole capsules vs. placebo in the treatment of toenail onychomycosis.

    Cutis·1997

    Area of Science:

    • Genetics
    • Metabolic Disorders
    • Neurology

    Background:

    • Menkes's syndrome (trichopoliodystrophy) is an X-linked recessive disorder.
    • It presents with characteristic hair abnormalities, intellectual disability, seizures, and progressive neurological decline.
    • Affected infants typically have a poor prognosis with early mortality.

    Observation:

    • Recent research implicates copper metabolism dysregulation in Menkes's syndrome.
    • Copper may be sequestered in tissues by metallothionein, leading to systemic deficiency.
    • This deficiency particularly impacts the developing fetal brain, causing irreversible damage.

    Findings:

    • This study reviews the clinical presentation and metabolic derangements observed in Menkes's syndrome.
    • The case highlights the complex interplay between copper transport and neurological development.

    Related Experiment Videos

  • Metallothionein's role in copper sequestration is a key focus.

    • Implications:

    • Understanding the molecular basis of copper trapping is crucial for therapeutic strategies.
    • Early diagnosis and intervention may mitigate neurological sequelae.
    • Further research into copper homeostasis could reveal novel treatment targets for neurodevelopmental disorders.