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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 1.
Metabolic disorders list pdf. If you have problems viewing pdf files download the latest version of adobe reader. Because there are so many types of inherited metabolic disorders treatment. There are thousands of different metabolic disorders that cause a specific enzyme to malfunction. Another group mitochondrial diseases affects the parts of the cells that produce the energy.
8 most commonly occurring metabolic disorders. Genetic and rare diseases information center gard po box 8126 gaithersburg md 20898 8126 toll free. 3 maple syrup urine disease. What are metabolic disorders.
Genetic disorders that affect the metabolism of food food that is not broken down properly may produce chemicals that build up in various parts of the body causing medical problems and learning problems missing or defective enzymes proteins necessary to metabolize food inherited disorders each parent is a carrier of a non each parent. Some affect the breakdown of amino acids carbohydrates or lipids. Inherited metabolic disorders can result in protein malfunction and toxic accumulation of metal in the body. Metabolic disorders such as hypoxia hepatic encephalopathy vitamin b12 deficiency and hypoglycaemia cause diffuse slowing of the background rhythm and the occurrence of triphasic waves which must be differentiated from triphasic sharp waves see creutzfeldt jakob disease below.
Enzymes help to break down food and provide the body s energy. Wilson disease toxic copper levels accumulate in the liver brain and other organs. Metabolic disorders may affect people of all age groups and usually have adverse neurological and cardiovascular effects. There are different groups of disorders.
For language access assistance contact the ncats public information officer. According to a recent survey by the world health organisation nearly 1 3 of the children in all the countries are suffering from metabolic disorders. Others are identified only after a child or adult shows symptoms of a disorder. Some metabolic disorders can be diagnosed by routine screening tests done at birth.
Treatment for an inherited metabolic disorder depends on the type and severity of the disorder.
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