Question
A child is noted to have cataracts at 2 weeks of age. A deficiency of galactose-1-phosphate uridyl transferase is found. Which of the following answers is true?
| A. |
the cataract is predominantly nuclear in its early stage.
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| B. |
without treatment the cataract usually progresses for only a few weeks.
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| C. |
A less severe adult form does not exist.
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| D. |
it is inherited in an autosomal recessive pattern.
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Show Answer
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Correct Answer � D
Explanation
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Answer D. it is inherited in an autosomal recessive pattern.
Explanation: The cataract in galactosemia (autosomal recessive) usually is an anterior and posterior subcapsular opacity. The cataract can become nuclear before it matures. A form-fruste type of galactosemia can occur in young adults (35 to 55 years of age), caused by a partial deficiency of galactose-1-phosphate uridyl transferase, resulting in a posterior subcapsular opacity at an early age.
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