General Instructions

In this learning activity, you will read and analyze the case scenarios below and answer questions that relate to lipid and amino acid metabolism.

Case Scenario 1:

GHI is a 23-year-old lady who presented to the Outpatient Department of a specialist hospital with a medical history of spleen removal secondary to hepatomegaly, joint and bone pains with femoral fractures at different times, and a previous liver biopsy which revealed accumulation of glucosylceramide in wrinkled looking cells.

Case Scenario 2:

JKL is a female child born after a normal pregnancy. Her development after birth did not occur normally, as expected. Upon presentation to a health center at the age of eight, the physician noted she could not feed herself, could not speak like children of her age and could only manage to say a few words, and showed involuntary limb movements. Her cognitive development was not encouraging, and after being subjected to an I.Q. test, her score turned out to be 70. Her skin is light-colored, and she has blue eyes and patches of white hair across her head.

Examination revealed a musty odor in her urine with large amounts of a certain amino acid (X). In addition, an appreciable amount of a compound was isolated from the urine, which, when incubated with NADH and lactate dehydrogenase (LDH), produced the following compound:

Step 1 Reflect

Read and reflect on the case scenarios above as they relate to lipid and amino acid 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 might be the likely diagnosis of GHI?

2. Discuss the pathophysiology of GHI’s condition

Case Scenario 2:

1. What metabolic disorder could be JKL’s condition?
2. Describe how the condition can be experimentally confirmed
3. Name the techniques that can be used to identify the unknown amino acid in the urine
4. Mention the class of reaction involved in the formation of compound II from the amino acid

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.”