Hypoxanthine Phosphoribosyl Transferase Deficiency Disease, also known as Lesch-Nyhan syndrome, is a rare inherited genetic disorder that affects the metabolism of purines, leading to a host of debilitating symptoms. This disorder is caused by a deficiency or absence of the enzyme hypoxanthine phosphoribosyl transferase (HPRT), which is responsible for converting hypoxanthine into inosine monophosphate (IMP) and guanine into guanosine monophosphate (GMP), crucial steps in the pathway of purine synthesis.
Individuals with HPRT deficiency disease typically exhibit various symptoms that arise from the accumulation of uric acid as a byproduct of purine metabolism. These symptoms include severe neurological abnormalities such as self-injurious behaviors, spasticity, intellectual disability, and the development of motor complications like dystonia and choreoathetosis. Additionally, affected individuals often suffer from kidney problems due to the deposition of uric acid crystals, leading to kidney stones and other renal complications.
There is no cure for HPRT deficiency disease, and treatment mainly focuses on managing symptoms and preventing secondary complications. Medications that reduce uric acid production, such as allopurinol, are commonly prescribed to prevent the formation of kidney stones and manage hyperuricemia, a characteristic feature of this disorder. Physical therapy, occupational therapy, and behavioral interventions are also employed to address the neurological and behavioral manifestations of the condition.
In summary, Hypoxanthine Phosphoribosyl Transferase Deficiency Disease is a rare genetic disorder with profound effects on purine metabolism and subsequent symptoms affecting the neurological and renal systems.
