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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.

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Important Questions from Congenital Disorders

  1. To prevent recurrence, expectant mothers with a previous fetus with neural tube defect should receive folic acid daily at the dose of :
  2. Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies: 

    1. It is carried out on maternal blood. 

    2. It is done before 10 weeks gestation. 

    3. It has a negative predictive value of about 98%. 

    4. Invasive testing is needed for confirmation of a positive test. 

    Which of the statements given above are correct?

  3. The risk of Down syndrome is 100% in the offspring, if:
  4. Which of the following are examples of genomic imprinting? 

    1. Angelman syndrome 

    2. Williams syndrome 

    3. Prader-Willi syndrome 

    4. DiGeorge syndrome 

    Select the correct answer using the code given below:

  5. To reduce the risk of neural tube defects in the baby, which of the following are recommended?
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