The Nucleotide Clinic
Patient I: |
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Findings: A 4 month-old female infant with a history of diarrhea, severe diaper rash due to Candida, and oral Candida infection, presented with pneumonia due to Pneumocystis carinii. The multiple yeast infections and Pneumocystis carinii suggest an immunodeficiency disease. The low lymphocyte count strengthens this possibility. Findings: Nothing in the child's history or her mother's history suggested a risk of HIV infection Based on the history, HIV infection seems to be a remote possibility. A sample was sent to the laboratory with a request for a PCR-based test for HIV RNA. There is no indication of HIV infection. Findings: To help pinpoint the enzyme that is defective, the clinical laboratory is asked to determine nucleotide levels in a 24hr urine sample. The results are: |
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Curser Over To Review the Purine Breakdown Pathways |
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