General Instructions

In this learning activity, you will read and analyze the two case scenarios provided and answer the questions related to carbohydrate metabolism.

Case Scenario 1

ABC is a 3-year-old boy who was referred to the hematologist after a pediatrician found him with an enlarged spleen (Splenomegaly), yellowing of the sclera of the eyes (Jaundice), and low blood volume (Anemic). In an interview with his mother, she hinted at a possible history of a blood-related disorders in her family, as revealed by the past medical diagnosis of other family members.

ABC was subjected to a test that measures the different types of hemoglobin in the blood (Hemoglobin Electrophoresis). The result was normal, and the Complete Blood Count (CBC) revealed normocytic anemia. However, bizarre erythrocytes, including spiculated cells, were observed on the peripheral smear.

ABC was diagnosed with pyruvate kinase deficiency.

Case Scenario 2

DEF is a 10-year-old girl with a grossly enlarged abdomen. Her medical history includes frequent sweating, episodes of weakness, and pallor that were eliminated by eating. DEF’s development had been undoubtedly slow. She began to sit at 11 months, walked freely/unassisted at two years, and was doing poorly in school.

Physical examination revealed normal blood pressure, temperature, and a normal pulse rate but a subnormal weight (20 kg). Her liver was enlarged, firm, and descended into the pelvis. The spleen and kidneys were not palpable.

Other physical examination parameters were within normal limits.

However, laboratory investigation reports revealed low blood glucose, low pH, high lactate, triglycerides, ketones, and free fatty acids. Again, the liver biopsy revealed high glycogen content. However, the hepatic glycogen structure was normal.

Very low Glucose-6-Phosphate levels were observed after an enzyme assay was performed on the biopsy tissue.

Step 1: Reflect

Read and reflect on the case scenarios above as they relate to carbohydrate metabolism.

Step 2: Respond

Based on the case scenarios above, prepare a 500-600 word written response that answers the following key questions:

Case Scenario 1:

1.  What is the biochemical basis of ABC’s disorder, and describe it?
2. Discuss the role of erythrocytes and ATP in the condition
3. Discuss the biochemical basis of anemia

Case Scenario 2:

1.  What might be the probable diagnosis of DEF’s condition?

2. Describe the pathophysiology of DEF’s condition

Step 3: Share 

To share your work, click on the “Add a new discussion topic” button under this post and paste your work into the “Message” box. Make sure to reference others’ intellectual property when necessary. All references should follow 7th Edition APA formatting. For further instructions, see the resource on the Himmelfarb Health Sciences Library: APA citation resource (N.B.: references are excluded from word counts).

Step 4: Interact 

To complete the activity, you will need to reply to at least two posts made by your peers in a respectful and professional manner. Be sure your post engages your peers' ideas by including a reflection on their comments, sharing ideas on other potential difficulties and parties involved, or asking thought-provoking questions. If a peer comments on your posting, please reply. To post a reply, click “Reply” on a particular discussion, write your feedback and then click on “Post to forum.”

OPTIONAL Step 5: Interact (10 minutes)

If you would like to, you can reply to your peers' posts in a respectful and professional manner. Ensure that your post engages your peers' ideas by including a reflection on their comments, sharing ideas of other potential difficulties and parties involved, or asking thought-provoking questions. If a peer comments on your posting, please reply. To post a reply, click “Reply” on a particular discussion, write your feedback and then click on “Post to forum.”