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inborn error

inborn error A genetically determined biochemical disorder that results in an enzyme defect: this produces a metabolic block and has pathological consequences. Two examples in humans are phenylketonuria, in which tissue degeneration results from the accumulation of a toxic intermediate in the pathway of tyrosine metabolism, and Wilson's disease, in which death results from poisoning by copper because of a blockage in the pathway of copper detoxification. In both cases a single nucleotide substitution has produced a recessive allele that interferes with a metabolic pathway and causes death of the homozygotes.

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