Which enzyme deficiency leads to intracellular accumulation...

Name: which enzyme deficiency leads to intracellular accumulation of galactose 1 phosphate in galactosemia 44724
Uploaded: 2022-04-03T07:41:20-08:00
Duration: 4 min
Channel: Shalini Tyagi
Description: which enzyme deficiency leads to intracellular accumulation of galactose 1 phosphate in galactosemia 44724

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10. Galactosemia is the name of a metabolic disorder: What enzyme is likely missing in this disorder?

Shalini T.

2-points-question-12-ability-to-correctiy-metabolize-galactose-for-use-in-disease-caused-by-benetic-defect-that-affects-an-individuals-galactosemla-i5-lactosemia-results-in-high-but-has-no-e-58794

Ability to correctly metabolize galactose for use in diseases caused by genetic defects that affect an individual's galactosemia is lactosemia. This results in high galactose levels in the blood and accumulation of galactose, but it has no effect on the metabolism of starch and glycogen or on glycolysis in the glycolytic pathway. Which of the following enzymes would you expect to be defective in a person with galactosemia? a) Uridyl transferase b) Hexokinase c) UDP-galactose 4-epimerase d) Fructose-1,6-bisphosphatase e) Pyruvate kinase

Madhur L.

Galactosemia can result from a deficiency of either galactokinase or UDP-glucose:galactose 1-phosphate uridylytransferase (transferase). Although a deficiency of either enzyme will cause gastric discomfort after milk ingestion, transferase deficiency also results in liver, kidney, spleen, and brain dysfunction, and in some cases, death. Select the statements that correctly link each type of enzyme deficiency with the metabolites that accumulate in the blood and tissues. A deficiency in either enzyme will result in an accumulation of lactose; however, a transferase deficiency will also cause an accumulation of the toxic product UDP-galactose. Transferase converts galactose 1-phosphate to UDP-galactose; therefore, a transferase deficiency will cause an accumulation of galactose 1-phosphate. A galactokinase deficiency will result in an accumulation of galactose 1-phosphate. Galactokinase catalyzes the formation of galactose 1-phosphate; therefore, a deficiency in galactokinase will result in an accumulation of galactose. A transferase deficiency will cause an accumulation of UDP-glucose.

Sri K.

Transcript

00:01 Galactosemia is a disorder that affects how the body process a simple sugar called galactose.

00:09 Now it is the deficiency is caused due to mediation in genes and due to deficiency of some enzymes that causes the sugar galactose to build up in the blood.

00:24 It is an inherited disorder, the genetic disorder and parents can pass it down to their biological children.

00:30 So the parents are considered to be as the carrier of this disease...

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Which enzyme deficiency leads to intracellular accumulation of galactose 1-phosphate in galactosemia?

Question

Which enzyme deficiency leads to intracellular accumulation of galactose 1-phosphate in galactosemia?

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