Health Tips for Seniors

Why Metabolism Maladies are Difficult to Prevent

A large number of symptoms and maladies constitute defects with in metabolism. Inherited genetic anomaly is the cause of these defects. As a result there is abnormal metabolism in the person concerned. Peisonoces substances accumulate on account of this. This also results in the prevention of the use of essential ingredients which are brought together during normal metabolism.

Brief History of inborn Errors

These were the types of conditions classified as errors that were inborn in metabolism by Sir Archibald Garrod, second generation British physician. First he recognized four inborn errors in metabolism. But hundreds of these types of disorders have been discovered by the doctors.
According to Archibald Garrod, albinism, alkaptonuria, cystinuria and pentosuria are the inherent defect of metabolism. These are also called as congenital or inherited metabolic diseases.

What types of diseases are Inborn Errors of metabolism

A few examples are albinism, a lack of pigment in the skin, hair, and eyes. Phenylketonuria, or PKU, cystinuria the cause of continuing kidney stones and thyroid disorders and hundreds of others.
Feeding problems, frequent emesis, increased rate of breathing, lethargy, diarrhea,apnea or seizures are some of the symptoms shown by children with inborn defects of metabolism. The child though normal at first may not show any signs till many days after birth.

Help for those affected

Parents are anxious and afraid of their children contacting these weakening diseases. Relief can be obtained by obtaining correct information and getting support from others in your community.
National Institutes of Healths office or rate diseases and genetics and National Human Genome Research Institute can give valuable information. The family doctor too can refer to local sources of information and support groups and agencies like NORTD and KUMC. Modern technological advance and testing methods have allowed earlier detection and treatment of genetic disorders of the metabolic kind. Researchers hope that someday these disorders can be prevented totally as the causes are known already.

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