Causes
A mutation in the ATP7A gene causes Menkes disease, a genetic disorder affecting copper levels in the body. A deficiency in copper transport results in Menkes disease, a condition primarily affecting males. It is inherited in an X-linked recessive pattern.
Symptoms
Menkes disease typically manifests during infancy and can cause the following symptoms:
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The hair is sparse, coarse, and often described as "kinky".
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Weight gain and growth are poor due to growth failure.
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Seizures, developmental delays, and hypotonia (reduced muscle tone) are some of the neurological issues.
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Loose skin, joints, and abnormal bone growth are examples of connective tissue problems.
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Difficulties sucking or swallowing food.
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An inability to maintain a normal body temperature.
Diagnosis
There are several steps involved in diagnosing Menkes disease:
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Evaluation of physical symptoms and medical history.
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Measurement of copper and ceruloplasmin levels in the blood.
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Testing for mutations in the ATP7A gene.
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Copper content is determined by skin biopsy.
Treatment
Menkes disease cannot be cured, but treatment focuses on managing symptoms and improving quality of life:
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Increasing copper levels in the body by administering copper-histidine injections.
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Physical, occupational, and speech therapy are provided to support development.
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Antiepileptic medications are used to control seizures.
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Supporting proper nutrition through feeding.
Prevention
Genetic counseling and prenatal testing are essential to preventing Menkes disease:
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Families with a history of Menkes disease can receive genetic counseling to understand the risks and implications of the disease.
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Genetic testing during pregnancy to detect mutations in the ATP7A gene.
Conclusion
A rare genetic disorder, Menkes disease affects copper transport in the body. Early diagnosis and treatment are crucial for managing symptoms and improving quality of life. Although there is no cure, ongoing research and supportive care can help affected individuals and their families significantly. Families with a history of the disease need genetic counseling and prenatal testing to make informed decisions.
