How did you discover that Lucy has ADA-SCID?…

Biology Questions

Explain how you found out that Lucy has ADA-SCID

Short Answer

The diagnosis process for Lucy involved three key steps: ruling out HIV, checking Deoxyadenosine levels in her blood, and confirming an ADA-SCID diagnosis based on elevated Deoxyadenosine levels. This sequence was crucial for identifying her condition and determining appropriate treatment options.

Step-by-Step Solution

Step 1: Rule Out HIV

The initial step in diagnosing Lucy was to ensure she did not have HIV. This was crucial, as the presence of HIV proteins in her blood would have indicated a different condition. Thus, testing her blood for the specific proteins was necessary to effectively eliminate the possibility of an HIV infection.

Step 2: Identify Deoxyadenosine Levels

Once HIV was ruled out, the next step involved checking the levels of Deoxyadenosine in Lucy’s blood. High quantities of this substance can indicate a metabolic issue related to the immune system. It is essential to carry out this test to gather evidence of any potential disorders affecting her health.

Step 3: Confirm ADA-SCID Diagnosis

After establishing that Lucy had elevated Deoxyadenosine levels, it pointed towards a diagnosis of ADA-SCID (Adenosine Deaminase Deficiency- Severe Combined Immunodeficiency). This condition occurs when the enzyme responsible for converting Deoxyadenosine into a different molecule is not functioning properly, leading to excess Deoxyadenosine in the bloodstream. Confirming this diagnosis allows for specific treatment options to be considered.

Related Concepts

Hiv

A virus that attacks the immune system and can lead to aids if not treated, necessitating testing to rule out infection in diagnostic processes.

Deoxyadenosine

A nucleoside that, in high levels, can indicate metabolic issues or disorders related to the immune system, used as a marker in diagnosing conditions like ada-scid.

Ada-Scid

A severe immune deficiency condition caused by a deficiency in the enzyme adenosine deaminase, leading to the accumulation of deoxyadenosine and resulting in increased susceptibility to infections.

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