- one of the major causes of autosomal recessive SCID
*symptoms:*
Lesch-Nyhan Syndrome
*pattern of inheritance*:
*metabolic deficiency:*
*symptoms:* - ANSWER✔✔-*pattern of inheritance*:
- x-linked recessive
*metabolic deficiency:*
- defective purine salvage due to absence of HGPRT which converts hypoxanthine to IMP and guanine to
GMP
- this results in excess uric acid production and de novo purine synthesis
*symptoms:*
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