Group: Leucine 11/18/2014 Case Study: Phenylketonuria KT is a newborn baby and is given the Guthrie Test two days after she is born. Her phenylalanine level is 25 mg/dl and she is diagnosed with phenylketonuria (PKU). PKU is an inborn error of amino acid metabolism. In order to avoid the potential development of mental retardation and seizures, KTs pediatrician recommends that she is put on a phenylalanine-restricted diet and drinks phenylalanine-free formula to get the amino acids that she needs in her diet. Her parents check her phenylalanine levels twice a week with a finger stick test and the goal of her treatment through a low phenylalanine diet is to lower her phenylalanine levels to 2-6 mg/dl. Question #1: What effect does phenylketonuria have on the metabolism of phenylalanine? Key answer: A patient with PKU is unable to metabolize the amino acid phenylalanine due to the enzymatic deficiency of phenylalanine hydroxylase. If the serum level of phenylalanine becomes too high, it is transaminated to phenylpyruvate by alpha-ketoglutarate. Phenylpyruvate is a phenyl ketone that is detected in the urine and a diagnostic test for PKU. It is also considered to be neurotoxic above threshold concentrations, resulting in the aforementioned potential development of mental retardation and seizures. Question #2:. KT is at risk for being deficient in what specific amino acid derived from phenylalanine? What are some examples of the role that this amino acid has in the body? Key answer: Since KT is deficient in phenylalanine hydroxylase, she cannot convert phenylalanine to the amino acid tyrosine. Tyrosine is essential for the synthesis of catecholamines and thyroxine in the body. Tyrosine should be supplemented in KTs diet. Question #3: What would be the metabolic complications if KT were to have gone undiagnosed, and therefore not treated properly? Key answer: If left untreated, phenylalanine will not be converted to tyrosine, causing a buildup of phenylalanine in the body and a deficiency of tyrosine. If phenylalanine is in excess in the blood, it saturates the transporter from the blood to the brain used by other large amino acids. Because phenylalanine blocks access for other amino acids to reach the brain, the necessary amino acids for neurotransmitter synthesis are not available. This hinders development of the brain and causes mental retardation.
Contribution of Each Group Member
Joanna Manero: Key answer to Question #3 Leila Shinn: Case study development and Question #1 Melissa Raney: Development of Question #3 Nikki DeAngelis: Key answer to Question #1 and Question #2 and Key answer Nol Konken: Research on reliability of answers
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