Describe one inborn error of metabolism, discussing the metabolic process it affects, the consequences of the disease, and its treatment.

Question

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Answer 1

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Inborn errors of metabolism occur when a person inherits a defective gene coding for a specific enzyme from both parents. Both parents are likely to be carriers of the defective gene-that is, they have 1 healthy gene and 1 defective gene for the enzyme in their chromosomes. When each parent donates the defective form of the gene to the offspring, the offspring has 2 defective copies of the gene and therefore little or no activity of the enzyme that the gene normally would produce. If a person has a defective gene, he or she produces a defective protein based on the instructions contained in that defective gene.

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