Question
Which one of the following Mendelian disorders is influenced by diet?
The correct answer is
Phenylketonuria
Disorder Dietary Influence: Phenylketonuria
Phenylketonuria (PKU) is a rare inherited metabolic disorder. It affects how the body breaks down an amino acid called phenylalanine, found in many foods.
Why Diet Influences PKU
- Metabolic Pathway: In individuals with PKU, a specific enzyme (phenylalanine hydroxylase) is deficient or absent, preventing the conversion of phenylalanine into tyrosine.
- Build-up: This leads to a build-up of phenylalanine in the blood and tissues. High levels can damage the brain and nervous system, causing intellectual disability and other issues.
- Dietary Management: Strict adherence to a special low-phenylalanine diet from infancy is crucial. This diet restricts high-protein foods (like meat, dairy, nuts, and certain artificial sweeteners) and is carefully managed throughout life.
- Outcome: Proper dietary management significantly reduces the risk of severe health complications associated with PKU.
Other Mendelian Disorders
The other options are Mendelian disorders but are not primarily influenced or managed by diet in the same direct way as PKU:
- Cystic Fibrosis: Primarily affects lungs and digestive system; managed with medications and therapies.
- Haemophilia: A blood clotting disorder; managed with clotting factor replacement.
- Thalassemia: A blood disorder affecting haemoglobin; managed with blood transfusions and other medical treatments.
Therefore, Phenylketonuria is the Mendelian disorder influenced by diet.
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Important Questions from Mutation
- Which one of the following mechanisms is expected to generate tightly linked genes?
- In a population, there are two morphs, A and B, which reproduce at equal rates. A mutates to B with probability $p_1$, and B mutates to A with probability $p_2$ such that $p_1 \gg p_2$ (that is, $p_1$ is much greater than $p_2$). Over time, which one of the following statements would be true about this population?
- A gene coding for a particular protein exhibits 2% DNA sequence divergence between humans and chimpanzees. However, protein sequences encoded by them are identical. Which one of the following processes explains this?
- Gene conversion can lead to which one or more of the following evolutionary outcomes?
- For a given gene there is 5% DNA sequence divergence between two species, however the protein coded by this gene has identical sequences in the two species. Which of the following types of mutations best explains this pattern in the DNA sequence?
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