THEME AND FOCUS: METABOLISM OF NUCLEOTIDES Case Study: A 17- month- old girl suffered from recurring respiratory infections. Injection of Diphtheria-Peussis-Tetanus (DPT) and Typhoid vaccine produced only a minimal response. The lysate of girl’s erythrocytes were found to lack detectable adenosine deaminase activity. Her mother and father both showed approximately 50% of the normal red cell adenosine deaminase activity. Lead Question: Diagnose the disease.
Correct Answer: SCID
Description: Severe combined immunodeficiency(SCID) Crushing Muscular Trauma Lesch-Nyhan syndrome ADA (Adenosine Deaminase) deficiency Muscle cell damage resulting from pressure or crushing. Deficiency of Hypoxanthine Guanine Phospho Ribosyl Transferase (HGP). Required for both B & T lymphocytes. Hyperuricemia Self -mutilation
Category:
Biochemistry
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