**Core Concept:**
The question is testing the understanding of glucose tolerance testing during pregnancy and the enzymes involved in glucose regulation. In this case, the patient has a positive Clinitest reaction and normal blood glucose levels, indicating impaired glucose tolerance (IGT) due to enzyme deficiency.
**Why the Correct Answer is Right:**
In the context of pregnancy, IGT is a common phenomenon, particularly in the second and third trimesters. Glucose tolerance testing comprises fasting, 1-hour, and 2-hour blood glucose levels during a 75g oral glucose tolerance test (OGTT). The patient's normal blood glucose levels during the OGTT indicate that the issue is not with glucose uptake but with its utilization.
**Why Each Wrong Option is Incorrect:**
A. Glucose-6-phosphate dehydrogenase (G6PD) deficiency: This enzyme deficiency primarily affects men and causes hemolysis, not impaired glucose tolerance.
B. Phosphofructokinase deficiency: This enzyme deficiency is rare and affects glucose utilization, not impaired glucose tolerance.
C. Pyruvate kinase deficiency: This enzyme deficiency primarily affects erythrocytes and causes hemolysis, not impaired glucose tolerance.
D. Glucose-6-phosphatase deficiency: This enzyme deficiency affects glucose regulation, but the patient has normal blood glucose levels, ruling it out.
**Defective Enzyme:**
The correct answer is D. Glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD deficiency affects the pentose phosphate pathway, an essential pathway for red blood cell survival, and does not affect glucose utilization.
**Clinical Pearls:**
1. IGT in pregnancy is often asymptomatic and may not lead to overt hyperglycemia.
2. A positive Clinitest reaction indicates impaired glucose utilization, which is characteristic of G6PD deficiency.
3. Normal blood glucose levels during OGTT rule out other enzyme deficiencies affecting glucose utilization.
**Explanation:**
In G6PD deficiency, the pentose phosphate pathway is impaired, leading to increased formation of reactive oxygen species (ROS) causing hemolysis in red blood cells. This hemolysis results in elevated serum lactate dehydrogenase (LDH) levels, which can be detected in the OGTT. The positive Clinitest reaction indicates impaired utilization of glucose by the red blood cells, not glucose absorption or production.
**Why the Correct Answer is G6PD Deficiency:**
G6PD deficiency affects the pentose phosphate pathway, which is critical for red blood cell survival. The elevated serum LDH levels and positive Clinitest reaction in the OGTT suggest impaired glucose utilization by the red blood cells due to G6PD deficiency. The normal blood glucose levels during the OGTT rule out other enzyme deficiencies affecting glucose utilization.
**Clinical Pearls:**
1. G6PD deficiency is the most common X-linked hereditary disorder affecting red blood cells.
2. The enzyme is involved in the production of NADPH, which protects red blood cells from oxidative stress.
3. The deficiency leads to red blood cell hemolysis, causing anemia and jaundice in neonates.
4. Scre
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
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