Glycogen storage disease is an inherited condition in which the enzyme glycogen synthase does not function - Scottish Highers Human Biology - Question 2 - 2015
Question 2
Glycogen storage disease is an inherited condition in which the enzyme glycogen synthase does not function.
This enzyme normally catalyses one step in the conversion... show full transcript
Worked Solution & Example Answer:Glycogen storage disease is an inherited condition in which the enzyme glycogen synthase does not function - Scottish Highers Human Biology - Question 2 - 2015
Step 1
State the term which describes a metabolic pathway in which simple molecules are built up into complex molecules.
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Answer
Anabolic/synthetic/biosynthetic synthesis.
Step 2
Describe how the genetic code for glycogen synthase might be altered in an individual with the disease.
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Answer
It will contain a different nucleotide/base or it will contain a different codon/stop codon.
Step 3
Explain why this altered genetic code fails to produce glycogen synthase.
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Answer
The protein/enzyme/glycogen synthase contains a different amino acid sequence, which may affect its structure and function, leading to non-production or non-function of glycogen synthase.
Step 4
Suggest why individuals with glycogen storage disease might develop abnormally low blood glucose levels during exercise.
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Glucose is used up in respiration to provide energy/ATP, and they have no glycogen stored to provide more glucose.
Step 5
Describe a pattern of inheritance, shown by a family history, which would indicate that the condition is recessive.
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Affected individuals can have an affected child.
Step 6
Describe a pattern of inheritance, shown by a family history, which would indicate that the condition is sex-linked.
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More males will be affected than females. Affected males do not pass the condition to their sons; however, affected males can pass the condition to carrier females, who then may have affected sons.
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