Phenylketonuria: Genetics and Treatment Overview
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Questions and Answers

Which term describes mutations on different loci but causing the same phenotype?

  • Enzymopathies
  • Aminoacidopathies
  • Modifier genes (correct)
  • Loss of function mutations
  • What is the main enzyme deficiency associated with Phenylketonuria?

  • Homocystinuria
  • Alpha1 antitrypsin deficiency
  • Loss of I-cell disease
  • Phenylalanine hydroxylase (PAH) (correct)
  • Which enzyme is responsible for converting phenylalanine to tyrosine?

  • Tetrahydrobiopterin (BH4)
  • Phenylketonuria
  • Phenylalanine hydroxylase (PAH) (correct)
  • Alpha1 antitrypsin
  • What is the genetic inheritance pattern of Phenylketonuria?

    <p>Autosomal recessive</p> Signup and view all the answers

    Which disorder is characterized by the inability to degrade phenylalanine?

    <p>Phenylalanine hydroxylase (PAH) deficiency</p> Signup and view all the answers

    Which condition was the first recognized genetic cause of mental retardation?

    <p>Phenylketonuria</p> Signup and view all the answers

    Which organelle is responsible for the degradation of biological macromolecules?

    <p>Lysosome</p> Signup and view all the answers

    What is the main focus of the lectures in FM2004&PM2004 by Dr. Collette Hand?

    <p>Diseases due to mutations in different classes of proteins</p> Signup and view all the answers

    What is a common consequence of genetic defects in lysosomal hydrolases?

    <p>Cell death</p> Signup and view all the answers

    How many single gene disorders currently have unidentified genes according to Dr. Collette Hand's lecture?

    <p>Over 3,000</p> Signup and view all the answers

    What is a characteristic feature of substrates storage in affected tissues or organs?

    <p>Neurodegeneration in the brain</p> Signup and view all the answers

    Which of the following is NOT mentioned as an effect of mutation on function by Dr. Collette Hand?

    <p>Decrease in expression</p> Signup and view all the answers

    In which population are compound heterozygotes common according to the text?

    <p>Asian descent</p> Signup and view all the answers

    In which lecture would Dr. Collette Hand most likely discuss diseases related to receptor proteins?

    <p>Lecture 2 - Structural proteins</p> Signup and view all the answers

    What is a key benefit of early treatment (< 4 weeks) for phenylketonuria?

    <p>Effectiveness in preventing seizures</p> Signup and view all the answers

    Which textbook is specifically mentioned as part of the Genetics lectures in FM2004&PM2004 by Dr. Collette Hand?

    <p>Strachan &amp; Read Elements of Genetics in Medicine</p> Signup and view all the answers

    How does the accumulation of substrates impact cellular function according to the text?

    <p>Leads to cellular dysfunction</p> Signup and view all the answers

    What is the number of genes known for various diseases as stated by Dr. Collette Hand in FM2004&PM2004?

    <p>~2,000 genes known</p> Signup and view all the answers

    What is the defining characteristic of mucopolysaccharidoses?

    <p>Accumulation of mucopolysaccharides in lysosomes</p> Signup and view all the answers

    What distinguishes the different types of mucopolysaccharidoses?

    <p>The length of the polysaccharide chains</p> Signup and view all the answers

    What is a common symptom associated with Hurler syndrome?

    <p>Short stature</p> Signup and view all the answers

    How are undegraded mucopolysaccharides typically detected in individuals with these disorders?

    <p>Detected in urine by screening tests</p> Signup and view all the answers

    What has shown some success in treating individuals with Hurler syndrome?

    <p>Enzyme replacement therapy</p> Signup and view all the answers

    What are the potential effects of an enzyme deficiency in a metabolic pathway according to the model described?

    <p>Accumulation of the substrate and derivatives, deficiency of the product and compounds made from it</p> Signup and view all the answers

    What is the expected activity level in heterozygotes for recessive enzyme deficiencies?

    <p>~50% activity</p> Signup and view all the answers

    In the context of enzyme deficiency, what is the difference between diffusible and macromolecular substrates?

    <p>Diffusible substrates are distributed throughout the body, while macromolecular substrates accumulate within cells</p> Signup and view all the answers

    What can result from the loss of multiple enzyme activities in a metabolic pathway?

    <p>Phenotypic homology</p> Signup and view all the answers

    Which proteins are mentioned as part of the next class after Enzymes according to the text provided?

    <p>Receptor proteins, Transport proteins, Structural proteins</p> Signup and view all the answers

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