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Galactosemia

Summary of Galactosemia
Galactosemia is a rare autosomal recessive genetic metabolic disorder that affects galactose metabolism. Galactosemia results from a deficiency in one of the enzymes responsible for galactose degradation, usually galactose-1-phosphate uridyltransferase, which results in toxin accumulation in the liver, eyes, and brain. 

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Galactosemia

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High Yield Notes
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Flashcards

Galactosemia

8 flashcards
Preview

The enzyme is deficient in patients with classic galactosemia.

Questions

USMLE® Step 1 style questions USMLE

5 questions

USMLE® Step 2 style questions USMLE

3 questions
Preview

A 1-year-old boy is brought to the emergency department because his mother is concerned that there may be something wrong with her child's eyes. She says that the child does not track her movement and believes that his eyes are getting "cloudy." A pediatric eye examination shows a negative red reflex and mature, nuclear cataracts in the toddler bilaterally. Which of the following enzymes is most likely deficient in this toddler?

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