PKU Worksheet Read the following paragraph about a genetic disorder identified as an inborn error of metabolism. Illustrate your understanding of metabolic pathways and mutations by responding to the guiding questions. Please also use this link ( https://rarediseases.org/rare-diseases/phenylketonuria/ ) for more information. Phenylketonuria (PKU) is an inherited disorder that is identified as an inborn error of metabolism. It is easily detectable during the first days of life through newborn screening tests. A drop of the infant’s blood can determine the presence of the enzyme that is responsible for processing the essential amino acid phenylalanine. With normal enzyme activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body to produce melanin (pigmentation in hair, skin, eyes), thyroid and other hormones. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood. A high level of phenylalanine is toxic to brain tissue and the result is severe brain damage and mental retardation. 1) Based on what you know about the action of enzymes in general, explain how the absence of the phenylalanine hydroxylase enzyme is disruptive to metabolism. 2) Why are people who have PKU generally very light in their coloration? 3) There is not a cure for this disorder, but adjustments can be made in an individual’s lifestyle that leads to a healthier life. What do you think those adjustments might be
PKU Worksheet
Read the following paragraph about a genetic disorder identified as an inborn error of
Phenylketonuria (PKU) is an inherited disorder that is identified as an inborn error of metabolism. It is easily detectable during the first days of life through newborn screening tests. A drop of the infant’s blood can determine the presence of the enzyme that is responsible for processing the essential amino acid phenylalanine. With normal enzyme activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body to produce melanin (pigmentation in hair, skin, eyes), thyroid and other hormones. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood. A high level of phenylalanine is toxic to brain tissue and the result is severe brain damage and mental retardation.
1) Based on what you know about the action of enzymes in general, explain how the absence of the phenylalanine hydroxylase enzyme is disruptive to metabolism.
2) Why are people who have PKU generally very light in their coloration?
3) There is not a cure for this disorder, but adjustments can be made in an individual’s lifestyle that leads to a healthier life. What do you think those adjustments might be?
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