Question

Based on the content on either amino acid or nucleotide metabolism choose one pathway (can be a synthesis or degradation) that has an associated disease linked to its malfunction and provide a few paragraphs that address the following:

1. What is the disease?

2. What metabolic pathway (or specific step in a mechanism) is it linked to and why/how does the malfunction in the pathway cause the disease?

3. Who is affected by the disease?

4. What therapies are there to treat the disease and describe how they work, specifically describing how it "fixes" the malfunction in the metabolic pathway.

Answer 1

Phenylketonuria (PKU) is a disease linked to a malfunction in the phenylalanine metabolism pathway, resulting in the accumulation of phenylalanine in the body. It can lead to intellectual disability and other neurological issues. The main treatment for PKU is a low-phenylalanine diet.

Step-by-step explanation:

An example of a disease linked to a malfunction in a metabolic pathway is Phenylketonuria (PKU), which is caused by a deficiency in the enzyme phenylalanine hydroxylase.

This enzyme is involved in the catabolic pathway of phenylalanine metabolism.

In PKU, phenylalanine is not properly metabolized and builds up in the body.

This can lead to intellectual disability, seizures, behavioral problems, and other neurological issues.

PKU affects individuals who inherit two copies of the faulty gene, with symptoms usually appearing in infancy.

The main treatment for PKU is a strict diet that limits the intake of phenylalanine, usually achieved by avoiding high-protein foods and supplementing with special formula that provides the necessary nutrients while keeping phenylalanine levels low.