PNP Deficiency
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version from
2017-05-11 20:20
Section
| Question | Answer |
|---|---|
| What are the clinical manifestations of PNP deficiency? | Failure to thrive, recurrent infections, absent T-lymphocytes, neurological impairment |
| What is the inheritance pattern? | Autosomal recessive |
| What chromosome is PNP located on? | 14q |
| Why does it specifically affect T-lymphocytes? | Deoxy guanosine triphosphate accumulates which inhibits DNA synthesis via RNA reductase inhibition |
| What is the normal function of PNP? | To convert inosine and guanine to hypoxanthine |
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