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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

Case Study: Phenylketonuria (PKU)

Bobby Orr

Adam Edwards

Danielle Heinbaugh

introduction what is pku
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
symptoms
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
the guthrie test
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.
how the guthrie test works
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.
slide6

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.
slide7

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
genetic counseling
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