Metabolism Module: G6PD Deficiency Case Study

What symptoms did the 6-year old child present with?

What was found in the red cells upon microscopic examination?

What is the normal activity level of red cell G6P dehydrogenase?

What is the main function of glucose 6-phosphate dehydrogenase?

What is the main function of NADPH in the body?

What led to the diagnosis of glucose 6-phosphate dehydrogenase deficiency?

What does an enzyme activity of 13 U/g tissue mean?

What biochemical evidence supports the presence of jaundice in the patient?

Why is the activity of glucose 6-phosphate dehydrogenase (G6PD) higher in red blood cells compared to other tissues?

What evidence indicates the presence of anemia in the patient?

Glucose 6-Phosphate Dehydrogenase Deficiency

A 6-year-old child presented with symptoms (not specified).
Microscopic examination of red cells revealed abnormal red cell morphology.
Normal activity level of red cell G6PD is 150-200 U/g tissue.
The main function of glucose 6-phosphate dehydrogenase is to catalyze the first step of the pentose phosphate pathway.
The main function of NADPH in the body is to maintain the reduction state of glutathione, which helps protect red blood cells from oxidative damage.
Diagnosis of glucose 6-phosphate dehydrogenase deficiency was made due to low enzyme activity and presence of jaundice and anemia.

Red Cell Enzyme Activity

An enzyme activity of 13 U/g tissue indicates severely deficient G6PD activity.
This reduced activity leads to impaired NADPH production, making red blood cells more susceptible to oxidative damage and hemolysis.

Pathophysiology of Anemia and Jaundice

Biochemical evidence supporting jaundice includes elevated bilirubin levels (not specified).
Presence of anemia is indicated by reduced red blood cell count or hemoglobin level (not specified).
Higher G6PD activity in red blood cells compared to other tissues is due to the critical need for NADPH in maintaining red blood cell integrity.

Test your knowledge of G6PD deficiency with this case study of a 6-year-old child presenting with symptoms after consuming rice and fava beans. Explore the clinical manifestations, history, and examination findings to make a diagnosis.