All Exams Test series for 1 year @ ₹349 only
Question

Which of the following is not an inborn error of metabolism?

The correct answer is
Thalassaemia

Identifying Non-Metabolism Error

The condition that is not typically classified as an inborn error of metabolism among the options provided is Thalassaemia.

Understanding Inborn Errors of Metabolism

Inborn errors of metabolism (IEMs) are genetic disorders resulting from specific enzyme deficiencies that disrupt metabolic pathways. These conditions are inherited and affect the body's ability to process certain substances.

Analysis of Options

  • Wilson's disease: An inherited disorder affecting copper metabolism, leading to copper accumulation. This is an IEM.
  • Phenylketonuria (PKU): An inherited disorder where the body cannot metabolize the amino acid phenylalanine due to a defective enzyme. This is an IEM.
  • Galactosaemia: An inherited disorder characterized by the inability to properly metabolize galactose, a type of sugar. This is an IEM.
  • Thalassaemia: This is a genetic blood disorder affecting the production of hemoglobin. While it involves metabolic processes for protein synthesis (globin chains), it is primarily classified as a disorder of hemoglobin synthesis or a hematological disorder, not a classical IEM defined by a specific metabolic pathway defect leading to molecule accumulation/deficiency.

Conclusion

Therefore, Thalassaemia stands out as it primarily affects hemoglobin structure/production rather than a distinct metabolic pathway commonly associated with IEMs like PKU, Galactosaemia, or Wilson's disease.

Was this answer helpful?

Important Questions from Congenital Disorders

  1. Which of the following is NOT a maternal risk factor for the development of a neural tube defect?

  2. Trisomy 13 is also known as:
  3. Which one of the following is a type of glycogen storage disease?
  4. Which of the following biochemical tests for the detection of aneuploidies is performed in the first trimester of pregnancy?

  5. Which of the following is NOT a birth defect related to a disorder in the development of the whole eyeball?

Need Expert Advice?

Start Your Preparation with Prepp Mobile App

Download the app from Google Play & App Store
Download the app from Google Play & App Store
Prepp Mobile App