Hypoxanthine Phosphoribosyl Transferase (HPRT) Deficiency Diseases are a group of rare genetic disorders that result from mutations in the HPRT1 gene. The HPRT1 gene provides instructions for synthesizing an enzyme called hypoxanthine phosphoribosyl transferase, which plays a key role in the production and recycling of purine molecules. Purines are essential building blocks of DNA, RNA, and several other important molecules within the body.
In individuals with HPRT deficiency, the enzyme is either absent or not functioning correctly, leading to the accumulation of toxic levels of purine byproducts, such as uric acid, in different tissues and bodily fluids. This abnormal build-up, called hyperuricemia, leads to a variety of symptoms and clinical manifestations.
HPRT deficiency diseases include Lesch-Nyhan syndrome (LNS) and Kelley-Seegmiller syndrome (KSS). LNS is the more severe form, characterized by neurological symptoms such as self-mutilating behavior, involuntary movements, intellectual disability, and developmental delays. Additionally, LNS may present with kidney and urinary issues, gout, and increased risk of infections. KSS is a milder variant, mainly associated with kidney stones, gout, and early-onset arthritis.
The inheritance of HPRT deficiency diseases is X-linked recessive, meaning that they primarily affect males, as the gene is located on the X chromosome. Carrier females typically do not present with disease symptoms but can pass the abnormal gene to their children. Diagnosis of HPRT deficiency diseases involves assessing the levels of uric acid and purine metabolites in the body and confirming the presence of HPRT1 gene mutations through genetic testing.
There is currently no cure for HPRT deficiency diseases, and treatment
