Phenylketonuria(PKU) is an inherited disorder in which the body is unable to breakdown an amino acid called phenylalanine. This causes the amino acid to build up in the body of affected individuals. High levels of phenylalanine can be detrimental and toxic to the body. People with PKU have to follow a strict diet in order to prevent the build up of large amounts of phenylalanine in the body.
Two types of PKU: (1)classical and (2)variant PKU. Classical PKU is the more severe type of PKU as children can get permanent brain damage if left untreated. The variant PKU is the less severe form as they have a lower risk of brain damage but they still need to follow the strict PKU diet.
Based on the mechanism of the conversion of phenylalanine to tyrosine under the functional enzyme catalysing this reaction, what are the alternative methods that the body utilise to obtain tyrosine? As we know, tyrosine is needed to make proteins, chemicals such as L-dopa and thyroid hormones, hence am I safe to assume that the starvation of the body of this enzyme (or insufficient amount of) would lead to severe effects for the patient?
ReplyDelete1) People with PKU have this special formulated medical food that contains all types of amino acid except phenylalanine. This will provide them the necessary amino acid needed by the body.
Delete2) Yes, you are right. That is why when PKU is left untreated, there is higher chances of getting severe brain damage with intellectual disability, behaviour abnormalities and other serious health problems.
Thanks for the reply. :)
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