Pku - Phenylketonuria or PKU is an autosomal recessive disorder where a newborn infant is missing an enzyme called phenylalanine hydroxylase

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Phenylketonuria or PKU is an autosomal recessive disorder where a newborn infant is missing an enzyme called phenylalanine hydroxylase. Without this enzyme, the infant cannot make tyrosine from the amino acid phenylalanine. This is a very serious disease for newborn infants, and everyone that is born is tested for it. If the infant has Phenylketonuria then they must be treated for it right away otherwise they might develop some metal retardation and central nervous problems. With the proper testing this disease can be easily prevents. But when not treated, it can have horrible affects. When a baby is born within a few days, it is tested for Phenylketonuria. “In the United States, Phenylketonuria is estimated to occur in every 14,000 to 20,000 live births…” (Rezvani, 2004: 398-402). That is a very, very low chance that the newborn will have Phenylketonuria, but in the rare case that they do have it, it is very treatable. What most people don’t realize about Phenylketonuria is that it is not a disease that you have a deficiency of; for example if you have a vitamin C deficiency you can get scurvy. But with Phenylketonuria that means that you have too much phenylalanine. This excess of phenylalanine builds up in the infant’s brain and bloodstream, usually causing the child to become mentally retarded and/ or central nervous problems. There is still an incredibly small chance that your child might even be able to get Phenylketonuria. It is an autosomal disease, so to get this disease, you have to get a gene from each of your parents, and if you get only one you can only be a carrier of it. “About 50% of untreated infants have early symptoms, such as vomiting, irritability, an eczema- like rash, and a mousy odor to the urine. Some may also have subtle signs of nervous system function problems, such as increased muscle tine, and more active muscle tendon reflexes.” (Holtzman, 1986: 593-598). However unlikely if
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the infant must have treatment done, they put the child on a special diet. This diet usually
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This note was uploaded on 03/31/2008 for the course ANT 206 taught by Professor Borders during the Fall '08 term at Grand Valley State University.

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Pku - Phenylketonuria or PKU is an autosomal recessive disorder where a newborn infant is missing an enzyme called phenylalanine hydroxylase

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