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Biochemistry Practice MCQs

Browse 8,805 high-yield clinical questions in Biochemistry. Includes detailed explanations, options, and topic tags.

#1438 Metabolism of protein and amino acid

A 3-month-old girl was referred for recurrent fever, pneumonia, diarrhea, chronic dermatitis, failure to thrive, and motor retardation. The patient was the daughter of consanguineous parents and had a female sibling who had died due to recurrent infections. She suffered from oral thrush and a diffuse brownish colored macular rash on the trunk. Chest auscultation revealed bilateral crackles at the lower zones. Chest X-ray, indicated the absence of thymus shadow; a para-cardiac infiltration and an inferolateral squaring scapulae were demonstrated.Laboratory tests revealed mild anemia with profound lymphocytopenia, and hypogammaglobulinemia. adenosine deaminase (ADA) enzyme activities were low.What is the diagnosis?

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