EBK LIFE: THE SCIENCE OF BIOLOGY
EBK LIFE: THE SCIENCE OF BIOLOGY
11th Edition
ISBN: 8220103935432
Author: Sadava
Publisher: MAC HIGHER
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Chapter 41, Problem 1Q
Summary Introduction

To review:

The time is taken by enzyme replacement therapy (ERT) to restore the blood adenosine deaminase (ADA) levels and the reason behind the requirement of the weekly injections during the ERT therapy to restore blood ADA and deoxyadenosine level.

Given:

The enzyme replacement therapy was performed in one patient. The dosage of the enzyme, which is measured in milliliter per kilogram (mL/kg), administered to the patient, was increased in the subsequent weeks. In each week plasma, ADA levels were measured in micromole per hour per liter (µmol/h/L), and the data was recorded in the given Table 1 below.

Table 1: The results of enzyme replacement therapy in one patient.

Weeks after initial administration of ADA enzyme The dosage of enzyme (mL/kg) Levels of ADA in plasma (µmol/h/L) Percent of deoxyadenosine with respect to all other adenine nucleotides.
0 0.1 0 44
1 0.1 2 28
2 0.2 3 19
3 0.2 7 11
4 0.2 8 5
5 0.2 5 4
6 0.2 4 3

Introduction:

The ERT can be used to treat the conditions caused by the deficiency of the enzymes. The ADA deficiency is a condition, in which the body is unable to synthesize adenosine deaminase, which causes the accumulation of deoxyadenosine.

This accumulation can be toxic to T-cells, causing their death leading to severe combined immunodeficiency (SCID). The SCID is an inheritable disorder, caused by the mutation in the gene responsible for the coding of ADA protein.

Expert Solution & Answer
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Explanation of Solution

The ERT therapy can help in the restoring the blood ADA level. The patient is given a small quantity of the enzyme (0.1 mL/kg) in the beginning and then the amount is increased to 0.2 mL/Kg. as observed from Table 1, the levels of ADA gets increased in the subsequent weeks. It took around 6 weeks in the patient to restore the normal deoxyadenosine levels, after the administration of the ADA enzyme in the patient.

The weekly injections of ERT are given to the patient, in order to maintain the normal ADA levels in the body. The weekly dose of the enzyme is given to the patients because the patient lacks the gene, which is responsible for the production of ADA.

Conclusion

Thus, it can be concluded that around 6 weeks are required to restore the normal blood ADA levels in the body, which results in the accumulation of less quantity of deoxyadenosine with respect to the other adenine nucleotides. The enzyme injections are given weekly to restore the normal ADA levels in the blood.

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