Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair, failure to gain weight and grow at the expected rate (failure to thrive), and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.
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?
Prenatal diagnosis of Menkes Disease is vital. Injections of copper histidine are known to increase concentration of copper in blood.
DID YOU KNOW?
Future studies are looking into ways to diagnose Menkes disease earlier in infants. Currently there is no effective method of diagnosing the disease early in newborns.