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Questions and Answers
Which enzyme deficiency is likely in this case?
Which enzyme deficiency is likely in this case?
What test was negative despite the presence of a reducing sugar in the urine?
What test was negative despite the presence of a reducing sugar in the urine?
What is the girl's growth curve and eating habits like?
What is the girl's growth curve and eating habits like?
Which enzyme deficiency is likely in this case?
Which enzyme deficiency is likely in this case?
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Which test was negative despite the presence of a reducing sugar in the urine?
Which test was negative despite the presence of a reducing sugar in the urine?
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What is the likely condition of the girl's growth curve and eating habits?
What is the likely condition of the girl's growth curve and eating habits?
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What is the likely enzyme deficiency in the 4-month-old girl with developing cataracts and a reducing sugar in her urine?
What is the likely enzyme deficiency in the 4-month-old girl with developing cataracts and a reducing sugar in her urine?
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Which enzyme deficiency is most likely responsible for the presence of reducing sugar in the urine of the 4-month-old girl?
Which enzyme deficiency is most likely responsible for the presence of reducing sugar in the urine of the 4-month-old girl?
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Which enzyme deficiency is associated with the development of cataracts and a negative glucose oxidase test in the 4-month-old girl?
Which enzyme deficiency is associated with the development of cataracts and a negative glucose oxidase test in the 4-month-old girl?
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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.
