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Prenatal Diagnosis of Arginase Deficiency
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Prenatal Diagnosis of Arginase Deficiency

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Questions and Answers

What is the primary location of the enzymes carbamyl phosphate synthetase and ornithine transcarbamylase in the human body?

  • Liver and intestine (correct)
  • Brain and heart
  • Pancreas and spleen
  • Muscle tissue and kidneys

    • What is the inheritance pattern of OTC deficiency?

  • Autosomal dominant
  • Autosomal recessive
  • Mitochondrial
  • X-linked (correct)

    • What is required for the enzyme carbamyl phosphate synthetase I to function?

  • Vitamin C
  • Folic acid
  • N-acetylglutamate (correct)
  • Iron

    • What is the effect of hepatotoxins on the urea cycle?

    <p>Impaired nitrogen clearance</p> Signup and view all the answers

    What is the typical age of onset for symptoms in patients with complete CPSI deficiency?

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

    Which of the following is NOT an autosomal recessive inherited disorder?

    <p>OTC Deficiency</p> Signup and view all the answers

    What is the effect of valproic acid on the urea cycle?

    <p>Decreased enzyme activity</p> Signup and view all the answers

    What is the result of a deficiency in the citrin transporter protein?

    <p>Reduced nitrogen clearance</p> Signup and view all the answers

    What is a common consequence of urea cycle disorders?

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

    What is the primary role of the urea cycle in the human body?

    <p>Detoxification of ammonia</p> Signup and view all the answers

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