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Case Study: Phenylketonuria (PKU)

Case Study: Phenylketonuria (PKU). Bobby Orr Adam Edwards Danielle Heinbaugh. Introduction: What is PKU?. PKU (Phenylketonuria) is a disorder defined as the inability to metabolize the essential amino acid phenylalanine

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Case Study: Phenylketonuria (PKU)

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  1. Case Study: Phenylketonuria (PKU) Bobby Orr Adam Edwards Danielle Heinbaugh

  2. Introduction: What is PKU? • PKU (Phenylketonuria) is a disorder defined as the inability to metabolize the essential amino acid phenylalanine • This can cause mental retardation, if untreated, although sufficient treatment can occur immediately after birth

  3. Symptoms: • The main symptom consists of mild to moderate mental retardation, but this is easily prevented through treatment • However, other side effects include seizures, vomiting, a “mousy odor”, and behavioral self-mutilation • In some cases, treatment can reduce or reverse the mental retartadtion

  4. The Guthrie Test: • determines the phenylalanine level in the blood • should be done on the second or third day of life • is a screening test done to identify elevated phenylalanine levels it is not diagnostic • PKU babies’ phenylalanine level is usually 20-40 mg/dl in comparison with normal levels of 4-6 mg/dl.

  5. How the Guthrie Test works: • Blood on filter paper is placed on agar plates with a strain of bacillus subtilis that requires phenylalanine for growth. • The presence of growth is indicated by a halo surrounding the filter paper. • If positive, blood phenylalanine and tyrosine levels are determined, and if elevated, a confirmatory assay for phenylalanine hydroxylase is done.

  6. PKU Inheritance: • Inherited as autosomal recessive disorder. • Variation to classical symptoms is result of compound heterogeneity. • 65 allelic variants make compound heterogeneity more common then homogeneity for the same allele.

  7. Treatment of PKU: • Phenylketonuria is treatable with a low phenylalanine diet. • phenylalanine levels should be kept below 15 mg per deciliter • Nutra sweet is especially high in phenylalanines

  8. Genetic Counseling: • Tell the parents that the baby will be normal if they follow the prescribed dietary guidelines • The child is normally out of danger of the disease after puberty • Phenylalanine should be avoided • Stay away from nutra sweet, meats, dairy products

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