Familial Hypercholesterolemia Quiz
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Questions and Answers

Which condition is characterized by high cholesterol levels, especially high LDL-cholesterol, and can lead to cardiovascular diseases such as atherosclerosis and coronary artery disease?

  • Familial hypercholesterolemia (correct)
  • Hyperlipidemia type I
  • Coronary cholesterol disorder
  • Atherosclerosis syndrome
  • Which enzyme deficiency leads to high phenylalanine concentrations in blood, causing the conversion of amino acids into phenylketones, resulting in impaired CNS development and intellectual disabilities?

  • Catecholamine kinase
  • Tyrosine synthase
  • Phenylalanine hydroxylase (correct)
  • Phenylketonuria reductase
  • What is the characteristic LDL-R activity in individuals with heterozygous familial hypercholesterolemia?

  • 100%
  • 50-75%
  • 2-25% (correct)
  • 0%
  • In addition to impaired CNS development and intellectual disabilities, what other outcome is associated with untreated phenylketonuria?

    <p>Developmental delay</p> Signup and view all the answers

    What is the consequence of homozygous familial hypercholesterolemia in individuals?

    <p>Atherosclerosis in childhood</p> Signup and view all the answers

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