A patient presents with severe gout, kidney problems, poor muscle control, and mild mental retardation along with high uric acid. What is the most likely disorder?

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Multiple Choice

A patient presents with severe gout, kidney problems, poor muscle control, and mild mental retardation along with high uric acid. What is the most likely disorder?

Purine salvage pathway deficiency causing hyperuricemia is the key idea. In Lesch-Nyhan syndrome, there is a deficiency of HGPRT, the enzyme that salvages hypoxanthine and guanine to form IMP and GMP. When salvage fails, cells increase de novo purine synthesis, leading to excess uric acid production. That results in very high uric acid levels with severe gout and kidney problems. Neurobehavioral features, including motor control issues and mild mental retardation, are also characteristic. The other disorders don’t typically cause such hyperuricemia or uric acid–related kidney problems: Wilson disease centers on copper metabolism with liver/brain involvement; Duchenne muscular dystrophy presents with proximal muscle weakness; hemochromatosis involves iron overload. Thus, the presentation fits Lesch-Nyhan syndrome.

Purine salvage pathway deficiency causing hyperuricemia is the key idea. In Lesch-Nyhan syndrome, there is a deficiency of HGPRT, the enzyme that salvages hypoxanthine and guanine to form IMP and GMP. When salvage fails, cells increase de novo purine synthesis, leading to excess uric acid production. That results in very high uric acid levels with severe gout and kidney problems. Neurobehavioral features, including motor control issues and mild mental retardation, are also characteristic. The other disorders don’t typically cause such hyperuricemia or uric acid–related kidney problems: Wilson disease centers on copper metabolism with liver/brain involvement; Duchenne muscular dystrophy presents with proximal muscle weakness; hemochromatosis involves iron overload. Thus, the presentation fits Lesch-Nyhan syndrome.

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