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 (A)</p> Signup and view all the answers

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

<p>Infancy (D)</p> Signup and view all the answers

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

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

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

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

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

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

What is a common consequence of urea cycle disorders?

<p>Hyperammonemia (B)</p> Signup and view all the answers

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

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