MENKES DISEASE Meaning and
Definition
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Menkes disease, also known as Menkes syndrome or copper transport disorder, is a rare genetic disorder primarily affecting copper metabolism in the body. It is named after the pediatrician, John Hans Menkes, who first described the condition in 1962. Menkes disease is inherited in an X-linked recessive pattern, which means that it mainly affects males.
Individuals with Menkes disease have impaired copper absorption and distribution throughout their body, resulting in copper deficiency in various tissues and organs. This deficiency disrupts the proper functioning of enzymes that require copper as a cofactor, leading to a broad array of systemic manifestations.
Infants with Menkes disease often display developmental delays and intellectual disability. They may also exhibit characteristic physical features such as sparse and kinky hair, low muscle tone, and loose skin. Neurological problems, including seizures and progressive deterioration of the nervous system, are common. Vascular abnormalities, such as tortuous blood vessels, may be observed in affected individuals. Additionally, bone abnormalities and weakened connective tissues, leading to joint problems, are common symptoms.
Menkes disease is typically diagnosed based on clinical features and confirmed through genetic testing, specifically targeting the ATP7A gene. Unfortunately, Menkes disease is associated with a poor prognosis, as affected individuals often have a limited lifespan. However, early detection and treatment can help improve the quality of life and delay disease progression. Treatment methods often include copper supplementation and management of symptoms and complications.
Common Misspellings for MENKES DISEASE
- nenkes disease
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Etymology of MENKES DISEASE
The term "Menkes Disease" is named after the Canadian physician, John Hans Menkes, who first described the condition in medical literature in 1962. Menkes disease is a rare genetic disorder that affects copper metabolism in the body. While the etymology of the name Menkes itself is unclear, it is originally of unknown origin, making it a surname without a specific meaning.
