Inborn errors of metabolism include a large number of diseases and symptoms. They are caused by an inherited genetic anomaly that results in abnormal metabolism in the affected individual. This abnormal metabolism often results in the build up of toxic substances in the body . It can also prevent the utilization of essential components that are normally synthesized during normal metabolism.
The Brief History Of Inborn Errors Of Metabolism
These types of conditions were categorized as inborn errors of metabolism in 1908 by Sir Archibald Garrod. Garrod was a second generation British physician. He initially identified four inborn errors of metabolism. Today's physicians have uncovered hundreds of these types of disorders.
Sir Archibald Garrod identified albinism, alkaptonuria, cystinuria and pentosuria as inborn errors of metabolism. Today, these inborn errors of metabolism are sometimes referred to as congenital or inherited metabolic diseases.
What Types Of Diseases Are Considered To Be Inborn Errors Of Metabolism?
Some examples are albinism which is a lack of pigment in the skin, hair and eyes, phenylketonuria, commonly referred to as PKU, cystinuria, which is known to be a cause of recurrent kidney stones, and thyroid disorders, along with several hundred others.
Some symptoms that may be exhibited by an infant with inborn errors of metabolism are often feeding problems, frequent emesis, faster than normal rate of breathing, lethargy, diarrhea, apnea or seizures. The infant may appear normal at first and may not manifest any symptoms until several days after birth.
Help For Families And Individuals Affected By Inherited Metabolic Diseases
Discovering that your child or loved one has a debilitating disease can lead to fears and concerns that can relieved by acquiring accurate information and seeking support from others in your community.
The National Institutes of Health's office of rare diseases and genetics can offer valuable information as well as the National Human Genome Research Institute. Your family practitioner or pediatrician can direct you to local sources of information as well as possible support groups and agencies that may be available to you and your family. Agencies such as NORD and KUMC can provide links to genetic education sources.
The advances in modern technology and testing procedures are resulting in the earlier detection and treatment of genetic metabolic disorders. Genetic researchers hope that with the discovery of the causes of these disorders that someday they can be prevented completely.
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