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Doctors for Menkes Disease in Sobermutt Galli, Hubli-Dharwad
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Menkes Disease is a rare, genetic disorder related to copper metabolism. Menkes Disease can be detected before birth itself. This is a degenerative disease that progressively affects many organs of the body. This is a neurodegenerative disease linked with X-linked copper malabsorption. Symptoms are:
• Brittle, tangled, sparse or kinky hair
• Ivory or white hair
• Premature birth in infants
• Excess bilirubin
• Developmental delay
• Loss of early development skills
• Degeneration of retina and cysts of the iris
HOW IS MENKES DISEASE DIAGNOSED?
Diagnosis of the same is done by a general physician who would run some blood tests along with doing a skin biopsy and other genetic testing.
HOW IS MENKES DISEASE TREATED?
Treatment is mainly symptomatic. Early parenteral copper-histidine supplementation may modify disease progression and some symptoms by providing extra copper to tissue and to copper-dependent enzymes. Oral administration of copper is ineffective as it is trapped in the intestines.
DID YOU KNOW?
The disease usually starts in babies and children that have this syndrome do not live more than 3 years of age. The disease occurs mostly in males.