Answer to Question #109709 in Biochemistry for kylie

Question #109709
Describe galactosaemia as a perturbation of carbohydrate metabolism.
1
Expert's answer
2020-04-21T12:52:41-0400

Galactosaemia is a genetic condition that affects how the body processes and breaks down simple sugars such as galactose. Patients with galactosemia usually present with an abnormally low amount the enzyme galactose-1-phosphate uridylyltransferase (GALT). The enzyme GALT is very critical in galactose metabolism.

The low deficiency of GALT enzyme is as a result of a mutation in the GALT gene. This leads to a deficiency of the GALT enzymes, which ultimately leads to an abnormal accumulation of galactose-related chemicals. 



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