Complete HGPRT (hypoxanthine-guanine phosphoribosyltransferase) deficiency disease, also known as Lesch-Nyhan syndrome, is a rare and inherited metabolic disorder characterized by a deficiency of an enzyme called HGPRT. This enzyme is vital for the recycling process of purine bases, which are building blocks of DNA and RNA. The absence or malfunction of HGPRT leads to the accumulation of uric acid in various body tissues, resulting in a range of neurological and physical symptoms.
Individuals with complete HGPRT deficiency disease typically exhibit a distinct set of features, including severe motor dysfunction, spasticity, dystonia, choreoathetosis, and self-injurious behaviors such as biting their own lips or fingers. They may also experience cognitive impairment, behavioral abnormalities, and developmental delay. Additionally, affected individuals frequently suffer from a variety of urinary problems due to the presence of excess uric acid, including kidney stones, gout, and occasionally kidney failure.
Diagnosis of complete HGPRT deficiency disease is typically confirmed through genetic testing, which identifies mutations in the HPRT1 gene responsible for encoding HGPRT enzyme. Unfortunately, there is currently no cure for this disorder, and treatment mainly focuses on managing symptoms. Medications, such as allopurinol and uricase, are often prescribed to help control the elevated levels of uric acid in the body. Additionally, physical and occupational therapies may help improve motor skills and reduce the impact of spasticity and dystonia.
The prognosis for individuals with complete HGPRT deficiency disease is variable, with the severity of symptoms differing among affected individuals. Lifespan may be shortened due to complications associated with the disorder, and supportive care is often required throughout the affected person's life
