A child exhibits clear symptoms during infections or after vigorous exercise indicating hypoglycemia (low blood sugar) as well as increased levels of lactic acid in the blood, and may initially show as shakiness, irritability or even lethargy. The child has a diet similar to other children, so that is not the problem; however, it is noted that diet supplementation with the amino acid alanine is an effective treatment when symptoms show. A) Explain at least two possible metabolic rationales including what and how enzymes might be affected and their metabolic and physiological effects producing this individual’s condition. B) Impressed by your response, your employer holds in her hands DNA sequencing results characterizing a mutation explaining the next case. This case involves an individual who is constantly depleting their glycogen stores, and the mutation is located in the gene encoding glycogen phosphorylase (only isozyme expressed) and the mutation results in an amino acid substitution(s). Explain to your employer what amino acid substitution(s) in glycogen phosphorylase might cause this phenotype, and explain why at an enzymatic level. C) Lastly, as you are on a roll, another biochemical study from another patient reveals a 100X increase in the KM value for the enzyme succinyl-CoA synthetase for this individual (only isozyme expressed). What metabolic and physiological consequences would you predict resulting from this enzymatic change?
A child exhibits clear symptoms during infections or after vigorous exercise indicating hypoglycemia (low blood sugar) as well as increased levels of lactic acid in the blood, and may initially show as shakiness, irritability or even lethargy. The child has a diet similar to other children, so that is not the problem; however, it is noted that diet supplementation with the amino acid alanine is an effective treatment when symptoms show.
A) Explain at least two possible
B) Impressed by your response, your employer holds in her hands DNA sequencing results characterizing a mutation explaining the next case. This case involves an individual who is constantly depleting their glycogen stores, and the mutation is located in the gene encoding glycogen phosphorylase (only isozyme expressed) and the mutation results in an amino acid substitution(s). Explain to your employer what amino acid substitution(s) in glycogen phosphorylase might cause this
C) Lastly, as you are on a roll, another biochemical study from another patient reveals a 100X increase in the KM value for the enzyme succinyl-CoA synthetase for this individual (only isozyme expressed). What metabolic and physiological consequences would you predict resulting from this enzymatic change?
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