Menkes disease: what a multidisciplinary approach can do
1Department of Pediatrics.
Journal of Multidisciplinary Healthcare
|August 31, 2016
Summary
Disorders of copper homeostasis, including Menkes disease, affect multiple organ systems. Research highlights genetics, phenotypes, and the need for multidisciplinary care to improve patient outcomes.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Copper homeostasis disorders span the lifespan, with historical links to animal and human diseases.
- Early recognition included neurodegenerative disorders in sheep and infants with
- kinky hair disease,
Purpose of the Study:
- To review the historical background, biochemistry, physiology, genetics, and genotype-phenotype correlations of copper homeostasis disorders.
- To emphasize the multisystemic nature and the need for a multidisciplinary approach to care.
Main Methods:
- Literature review tracing historical recognition and current understanding.
- Analysis of inheritance patterns, molecular genetics, and genotype-phenotype correlations.
- Discussion of clinical presentations and multisystem involvement.
Main Results:
- Copper homeostasis disorders encompass a spectrum from occipital horn syndrome to severe Menkes disease.
- Symptoms affect multiple organ systems including the brain, skin, and connective tissues.
- Animal models aid in screening treatments and understanding disease mechanisms.
Conclusions:
- Copper homeostasis disorders require a multidisciplinary approach for optimal care.
- Continued basic and clinical research is essential to improve survival and quality of life.
- Understanding genotype-phenotype correlations aids in managing diverse clinical presentations.
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