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 disease]

R Simkó1, B Lombay, I Velkey

  • 1Borsod-Abaúj-Zemplén Megyei Kórház-Rendelöintézet, Miskolc.

Orvosi Hetilap
|December 25, 1994
PubMed
Summary

Menkes disease, a rare X-linked copper metabolism disorder, causes severe neurological damage and is lethal in early childhood. This summary covers its diagnosis, pathogenesis, and therapeutic approaches.

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

Response of hypothalamic oxytocinergic neurons to immobilization stress is not dependent on the presence of corticotrophin releasing hormone (CRH): a CRH knock-out mouse study.

Journal of physiology and pharmacology : an official journal of the Polish Physiological Society·2009
Same author

Claudin-5 protein is a new differential marker for histopathological differential diagnosis of canine hemangiosarcoma.

Histology and histopathology·2009
Same author

Effect of peer support on prevention of postnatal depression among high risk women: multisite randomised controlled trial.

BMJ (Clinical research ed.)·2009
Same author

Suppression pattern of neutral pions at high transverse momentum in Au + Au collisions at sqrt[sNN]=200 GeV and constraints on medium transport coefficients.

Physical review letters·2008
Same author

Onset of pi(0) suppression studied in Cu+Cu collisions at sqrt S NN=22.4, 62.4, and 200 GeV.

Physical review letters·2008
Same author

A Brazilian galactosialidosis patient given renal transplantation: a case report.

Journal of inherited metabolic disease·2008

Area of Science:

  • Genetics and Metabolic Disorders
  • Neuroscience

Background:

  • Menkes disease is a rare, X-linked genetic disorder affecting copper transport.
  • It leads to systemic copper deficiency, impacting multiple organs.

Observation:

  • The disease is characterized by severe neurological degeneration, particularly affecting the brain and cerebellum.
  • Clinical presentation includes kinky hair, failure to thrive, and developmental delay.

Findings:

  • Diagnosis relies on clinical findings, biochemical assays for copper levels, and genetic testing.
  • Pathogenesis involves mutations in the ATP7A gene, disrupting copper homeostasis.
  • Current therapeutic strategies are limited, focusing on copper supplementation with variable efficacy.

Implications:

  • Early diagnosis and intervention are crucial for potentially mitigating severe outcomes.
  • Further research into novel therapeutic targets is warranted.
  • Understanding copper metabolism is vital for treating Menkes disease and related disorders.

Related Experiment Videos