What is another word for Hypoxanthine Phosphoribosyl Transferase Deficiency Disease?
Pronunciation: [hˌa͡ɪpə͡ʊzˈanθa͡ɪn fˈɒsfɔːɹˌɪbəsˌɪl tɹansfˈɜːɹe͡ɪz dɪfˈɪʃənsi dɪzˈiːz] (IPA) 
Hypoxanthine Phosphoribosyl Transferase Deficiency Disease, also known as Lesch-Nyhan syndrome, is a rare genetic disorder that affects the metabolism of purine. This condition leads to the accumulation of uric acid in the body, causing severe health issues. Individuals with this disease experience a wide range of symptoms, such as joint stiffness, muscle weakness, intellectual disability, and self-injurious behavior. While there may not be absolute synonyms for this specific condition, it is often referred to as HPRT deficiency or HGprt deficiency. These alternative names help simplify and facilitate communication amongst medical professionals, researchers, and patients dealing with this challenging disorder.
