Lesch-Nyhan syndrome

This code represents Lesch-Nyhan syndrome, a rare, X-linked recessive metabolic disorder characterized by the overproduction of uric acid, leading to severe gout, kidney stones, and neurological dysfunction. Patients typically present with cognitive impairment, spasticity, dystonia, and a hallmark feature of self-mutilating behaviors.

Assign this code for patients diagnosed with Lesch-Nyhan syndrome based on clinical presentation, elevated uric acid levels, and confirmed deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity or genetic testing. Documentation should clearly indicate the diagnosis of this specific inherited metabolic disorder.

• Do not confuse with other hyperuricemia codes unless Lesch-Nyhan syndrome is explicitly diagnosed.
• Code any associated manifestations, such as gouty arthritis or nephrolithiasis, in addition to this primary diagnosis.
• Ensure documentation supports the genetic or enzymatic basis for the diagnosis, if available.