The scenario that supports the "one gene-one enzyme" hypothesis of metabolic disease causation is Phenylketonuria (PKU). This disease (PKU) is caused by the failure to produce a functional variant of an enzyme.
Phenylketonuria (PKU) is a metabolic inherited disorder associated with a decreased metabolism of the amino acid phenylalanine.
PKU is caused by a mutation in the gene responsible for encoding a key enzyme needed to break down phenylalanine.
Untreated PKU may lead to diverse health problems which include brain damage, intellectual disability, seizures, mental disorders, etc.
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