Symptoms and cause of disease of Phenylketonuria
Haein Lee (10112134)
Phenylketonuria (PKU) is a congenital disease that causes physical and mental disorder to a patient. Just like other diseases, the symptoms of PKU can be varied by mild to severe. It is diagnosed as a PKU when there are 16.5~20.5mg/dL of Phenylalanine is present in the blood. (Phenylketonuria Ã¢ÂÂ¦ [no date] [in Korean]) The newborns appear normal when they are few months old, and if you lose the time for right treatment, the PKU leaves a baby with permanent intellectual disability such as seizures, delayed development, behavioral problems and psychiatric disorders. (Phenylketonuria Ã¢ÂÂ¦ 2014) With untreated patients, a "mousy" odor can be detected due to excess of phenylalanine in the body. (Phenylketonuria Ã¢ÂÂ¦ 2014) Also, light pigmentation, peculiarities of gait, eczema, and epilepsy is also present. (Phenylketonuria; PKU Ã¢ÂÂ¦ 2014) It is very important to study the symptoms and cause of disease of phenylketonuria because if a low-phenylalanine diet is made on earlier of the disease, it minimizes a risk of brain damage.
(Phenylalanine Ã¢ÂÂ¦ 2014) This could give both patient and their parents a hope that the patient could live more sustainable life. Also since this disease is an inherited disease in an autosomal recessive pattern, which means many people can own the mutated gene but shows neither signs nor symptoms of this disease, this means that people cannot simply tell that they would not produce their offspring without PKU. (Phenylalanine ... 2014) Therefore, studying this disorder would help people to closely observe any symptom of this disease is present, and give a motivation to scientists to research to develop any possible prophylaxis.
Phenylketonuria is caused from a deficiency of protein called phenylalanine hydroxylase (PAH) (Murzin et al., 1995) which catalyzes the hydroxylation of phenylalanine to...