Galactose metabolism

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8 Terms

1
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How is galactose metabolised?

  • Galactose ={Aldose reductase}=> Galactitol

  • Galactose ={Galactokinase}=> Galactose-1-phosphate ={Uridyltransferase}=> Glucose-1-phosphate

<ul><li><p>Galactose ={Aldose reductase}=&gt; Galactitol</p></li><li><p>Galactose ={Galactokinase}=&gt; Galactose-1-phosphate ={Uridyltransferase}=&gt; Glucose-1-phosphate</p></li></ul><p></p>
2
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What 2 molecules can Galactose be metabolised into?

  • Galactose ={Aldose reductase}=> Galactitol

  • Galactose ={Galactokinase]=> Galactose-1-phosphate

3
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How can glucose-1-phosphate be formed from galactose?

  • Galactose ={Galactokinase}=> Galactose-1-phosphate

  • Galactose-1-phosphate ={Uridyltransferase}=> Glucose-1-phosphate

4
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What are the 2 main disorders of galactose metabolism?

Both are autosomal recessive:

  • classic galactosemia

  • galactokinase deficiency

5
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What causes classic galactosemia?

  • galactose-1-phosphate uridyltransferase deficiency results in galactose-1-phosphate accumulation

6
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What are the signs and symptoms of classic galactosemia?

  • failure to thrive

  • infantile cataracts

  • hepatomegaly

7
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What does Galactokinase deficiency result in?

  • Galactitol accumulation, as galactose get converted to galactitol instead of galactose-1-phosphate

8
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What are the signs and symptoms of galactokinase deficiency?

  • infantile cataracts (galactitol accumulates in the lens)

  • no hepatic involvement

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