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Menkes disease

Zeynep Tümer1, Lisbeth B Møller

  • 1Kennedy Centre, Glostrup, Denmark. zet@kennedy.dk

European Journal of Human Genetics : EJHG
|November 6, 2009
PubMed

Insights

Menkes disease (MD) is a lethal genetic disorder affecting copper metabolism, causing neurodegeneration and connective tissue issues. Early copper-histidine treatment shows potential for mitigating neurological symptoms in affected males.

Area of Science:

  • Genetics and Molecular Biology
  • Biochemistry
  • Pediatric Medicine

Background:

  • Menkes disease (MD) is a fatal multisystem disorder impacting copper metabolism.
  • Key manifestations include progressive neurodegeneration, connective tissue abnormalities, and distinctive 'kinky' hair.
  • MD is an X-linked recessive condition primarily affecting males, stemming from mutations in the ATP7A gene.

Purpose of the Study:

  • To summarize the key features and genetic basis of Menkes disease.
  • To discuss the role of the ATP7A gene in copper transport and its implications in MD.
  • To review current therapeutic approaches, including the potential of early copper-histidine treatment.

Main Methods:

  • Literature review of Menkes disease.
  • Analysis of ATP7A gene mutations and their impact on copper metabolism.
  • Evaluation of treatment strategies for Menkes disease.

Main Results:

  • Menkes disease is characterized by severe neurodegeneration and connective tissue problems.
  • Mutations in the ATP7A gene disrupt cellular copper transport, leading to enzyme deficiencies.
  • Most severely affected patients succumb before age three; however, early copper-histidine intervention may ameliorate neurological deficits.

Conclusions:

  • Menkes disease is a severe genetic disorder with no definitive cure.
  • Understanding ATP7A's function is crucial for comprehending MD pathogenesis.
  • Prompt therapeutic intervention, such as copper-histidine treatment, offers a potential avenue for managing symptoms.

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