Menkes Disease
INFORMATION ON MENKES DISEASE:-
Menkes disease may be defined as a disorder of copper metabolism in the body as a result of which some parts of the body don't have enough copper (blood plasma, liver, and brain), while other parts of the body (kidney, spleen, skeletal muscle) accumulate too much copper.
CAUSES OF MENKES DISEASE:-
Mutation in gene is the main factor which leads to the development of Menkes syndrome in an infant.
We can also say that Menkes disease can also be result of hereditary.
SYMPTOMS OF MENKES DISEASE:-
1. Mental retardation.
2. Muscles become weak.
3. Low muscle tone.
4. Seizures
5. Poor growth
6. Scalp hair is short.
DIAGNOSIS OF MENKES DISEASE:-
Clinically Menkes disease can be diagnosed by:-
1. Copper and ceruloplasmin levels test in blood.
2. Skin biopsy.
3. Microscopic examination of hair.
4. CT scan.
5. Angiography.
6. MRI.
7. EEG.
TREATMENT OF MENKES DISEASE:-
If diagnosed early then it it is possible to relief a subject from Menkes symptoms. Early treatment with injections of copper supplements in veins or skin may provide some benefit. Other treatment is based on symptoms. Supportive treatment can also be employed.
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