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Inborn Errors of Metabolism: Case Study


The various types, complexity and clinical symptoms of inborn errors of metabolism present a very big challenge to practicing pediatricians. It is imperative for the physician to be aware of the signs and symptoms of these metabolic errors for early diagnosis and management of these disorders (Burton, 1998). Among the various congenital metabolic errors, phenylketonuria (PKU) is a commonly found disorder occurring in infants.

Even though quite a bit is known about the diagnosis and treatment of PKU, very little is known about the exact mechanism of PKU and its role in impairment of the cognitive mechanism in infants and adults (Williams et al, 2008). Therefore, more light needs to be shed on this aspect of the disease so that future treatments for this disorder are able to address the symptoms of PKU in a more holistic manner.

In this case study, Baby Ashlie was found to have symptoms of classical PKU that were very clear and pointed to a metabolic disorder. Thus, the physician treating such an infant should recognize the symptoms immediately and follow the protocol for diagnosis and treatment at the earliest to avoid any neurological impairment so that the infant can lead a very healthy and productive life in its childhood and adulthood (Brough et al, 2004). As such, PKU is not a deadly disorder and can be easily treated if the physician and clinician involved in the healthcare process understand and follow the process of timely diagnosis and treatment appropriately.        

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