14 August, 2017
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Metabolic diseases are caused by genetic birth defects that interrupt the body's metabolism and affect close to one out of 4,000 people, report doctors at the Mayo Clinic. There are thousands of different metabolic disorders that cause a specific enzyme to malfunction. Enzymes help to break down food and provide the body's energy. There is little treatment available for metabolic diseases.
Tay-Sachs is a disease that causes a progressive deterioration of the body's brain and neurological system. The condition can lead to eventual deafness, blindness or paralysis. Most instances of Tay-Sachs disease are diagnosed by the time a child is 6 months old, although the condition can remain latent until adolescence or adulthood. One common symptom of Tay-Sachs is a red dot in the back of the eyes. A diagnosis usually is confirmed by a DNA test for the gene. The Mayo Clinic reports that populations most at risk for Tay-Sachs are people of European-Jewish descent, French-Canadians from certain regions of Quebec and people from Louisiana Cajun communities. There is no cure for Tay-Sachs disease. Treatment includes keeping patients comfortable as the disease progresses.
Wilson's disease often goes undiagnosed, because symptoms don't appear until it is too late to treat. Wilson's disease causes an overabundance of copper to accumulate in the liver. The buildup eventually causes liver damage, cirrhosis and liver failure. Copper also can be released into other body systems and cause damage to the brain, eyes or red blood cells. Urinary and blood tests are used to diagnose the condition, confirmed by genetic DNA testing. People who are born with Wilson's disease receive an abnormal gene from both parents who may or may not have mild liver disorder symptoms. Wilson's disease is treated with dietary changes and medication. A liver transplant is required if damage causes liver failure.
Metachromatic leukodystrophy is a condition that causes progressive deterioration of the nervous system and the brain that leads to death. Leukodystrophy is a rare genetic metabolic disease that often is misdiagnosed as other conditions. Symptoms vary depending at what stage the condition is diagnosed. By age 4, children with the disease have not developed appropriately and may exhibit speech and gait abnormalities, vision loss or seizures. As children age, they can present with learning difficulties, incontinence or muscle spasms. Adolescents and adults develop sudden personality and behavioral changes and may have stiffness in the legs or tingling and pain in the hands and feet. Symptoms can be relieved with pain and ant-seizure medications or muscle relaxants. A bone marrow transplant often is required, or surgery is performed to repair bone deformities that occur as a result of extensive muscle spasms.
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