Childhood Diseases

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Childhood Diseases Phenylketonuria

During fetal and embryologic development up to the day of delivery, there are a couple of deficiencies and disorders that could possibly occur. One of the individually rare but collectively common disorders is the inborn errors of metabolism or also known as IEMs (Weiner, 2009). Such errors usually occur during the neonatal period although it can also possibly occur at any period of infancy. IEMs can be classified under different categories and some of the bases that are used in classifying are the pathophysiology and the metabolic functions that are affected. In general, IEMs are categorized into 2: Disorders that result in toxic accumulation, Disorders of energy production & utilization. Under these 2 are more specific classifications that particulates the type of metabolic functions that are impaired (Weiner, 2009). One of the failures in metabolism that may occur in a patient with PKU involves the incapacity to break down phenylalanine which is an essential amino acid found in the body. This is basically due to the absence of an enzyme called phenylalanine hydroxylase. Without the proper enzyme to metabolize the amino acid phenylalanine, it will continue to build up until such time that it will be harmful for the body. Organs that are usually affected by this disorder are the organs of the central nervous system and the brain (Lee, 2011). The physicians usually wait for 2 days or even more before ordering a test because the signs and symptoms of PKU do not usually manifest for a baby who is less than 2 days old. Usually, the test is repeated after 2 or 4 weeks of interval to verify whether the baby really has PKU or it is just false alarm. At some point, close monitoring is also done under these intervals because doctors will have to know how fast the disease could progress under such circumstance. Usually, it is important that the diagnosis take place within 2 years of life so that amino acids will not reach a...
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