Enzyme Deficiency Quiz
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Questions and Answers

Which enzyme deficiency is likely in this case?

  • Fructokinase
  • Aldolase B
  • Galactokinase (correct)
  • Glucose-6-phosphatase

What test was negative despite the presence of a reducing sugar in the urine?

  • Glucose oxidase test (correct)
  • Urine sugar test
  • Fasting blood glucose test
  • Galactokinase test

What is the girl's growth curve and eating habits like?

  • Accelerated growth curve and picky eating habits
  • Normal growth curve and no eating problems (correct)
  • Fluctuating growth curve and excessive eating
  • Stunted growth curve and eating difficulties

Which enzyme deficiency is likely in this case?

<p>Galactose-1-phosphate uridylyltransferase (C)</p> Signup and view all the answers

Which test was negative despite the presence of a reducing sugar in the urine?

<p>Glucose oxidase test (C)</p> Signup and view all the answers

What is the likely condition of the girl's growth curve and eating habits?

<p>Normal growth curve and eating habits (A)</p> Signup and view all the answers

What is the likely enzyme deficiency in the 4-month-old girl with developing cataracts and a reducing sugar in her urine?

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

Which enzyme deficiency is most likely responsible for the presence of reducing sugar in the urine of the 4-month-old girl?

<p>Galactose-1-phosphate uridylyltransferase (C)</p> Signup and view all the answers

Which enzyme deficiency is associated with the development of cataracts and a negative glucose oxidase test in the 4-month-old girl?

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

Study Notes

Enzyme Deficiency

  • The likely enzyme deficiency in the 4-month-old girl is galactose-1-phosphate uridyl transferase (GALT).
  • This deficiency is associated with galactosemia, leading to complications such as cataracts.

Urine Test

  • The urine test for glucose oxidase is negative despite the presence of a reducing sugar, indicating galactose rather than glucose in the urine.

Growth and Eating Habits

  • Growth curve for the girl suggests growth failure or undernutrition.
  • Eating habits may include increased intake of lactose due to the inability to properly metabolize galactose.

Clinical Signs

  • Development of cataracts is a significant indicator, often associated with untreated galactosemia.
  • Reducing substances in the urine indicate an alternative sugar metabolism issue, often linked with enzyme deficiencies in carbohydrate metabolism.

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Description

Test your knowledge of enzyme deficiencies with this quiz. Determine the likely enzyme deficiency in a 4-month-old girl with developing cataracts and a reducing sugar in her urine. Choose from options including Galactokinase, Galactose-1-phosphate uridylyltransferase, and Glucose oxidase.

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