Metabolic Disorders List Pdf
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There are different groups of disorders.
Metabolic disorders list pdf. You can develop a metabolic disorder when some organs such as your liver or pancreas become diseased or do not function normally. Metabolic disorders may affect people of all age groups and usually have adverse neurological and cardiovascular effects. If you have problems viewing pdf files download the latest version of adobe reader. 8 most commonly occurring metabolic disorders.
Another group mitochondrial diseases affects the parts of the cells that produce the energy. Some affect the breakdown of amino acids carbohydrates or lipids. Treatment for an inherited metabolic disorder depends on the type and severity of the disorder. 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 metabolic disorders can be diagnosed by routine screening tests done at birth. It is inherited and is marked by a condition of having not. There are thousands of different metabolic disorders that cause a specific enzyme to malfunction. 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.
Because there are so many types of inherited metabolic disorders treatment. Genetic and rare diseases information center gard po box 8126 gaithersburg md 20898 8126 toll free. What are metabolic disorders. This metabolic disease is common amongst african americans.
Others are identified only after a child or adult shows symptoms of a disorder. Enzymes help to break down food and provide the body s energy. Inherited metabolic disorders can result in protein malfunction and toxic accumulation of metal in the body. For language access assistance contact the ncats public information officer.
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.
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