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purine metabolism

Monday 15 October 2007

Anomalies of purine metabolism (Examples)

- Activating mutations of PRPS1 in PRPS-related gout or PRPS superactivity (MIM.300661)

- Loss-of-function mutations of PRPS1 in CMTX5 (X-linked Charcot-Marie-Tooth disease) and Arts disease


- Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. PMID: 17701900