Enzymes are crucial in inherited metabolic diseases, causing pathway malfunction. Examples like PKU and Tay-Sachs disease illustrate enzyme deficiencies' severe consequences.
Enzymes are the components that are missing or defective in inherited metabolic diseases, leading to the malfunction of metabolic pathways. In these disorders, the absence of the normal enzyme disrupts the body's ability to process specific compounds, resulting in harmful build-up or deficient product synthesis.
For instance, in phenylketonuria (PKU), the enzyme responsible for catalyzing the initial breakdown of phenylalanine is faulty, causing an accumulation of this amino acid, which can lead to intellectual disabilities if left untreated.
Similarly, in Tay-Sachs disease, there is a deficiency in the enzyme necessary to break down certain lipids, resulting in severe neurological impairment.
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