Gene Replacement Therapy for Inborn Errors of Purine Metabolism
This extract was created in the absence of an abstract.
Excerpt
Deficiencies in the enzymes involved in purine metabolism lead to a variety of clinical manifestations. The most common of these inborn errors of purine metabolism is the deficiency of hypoxanthine phosphoribosyl transferase (HPRT), which can lead to Lesch-Nyhan syndrome. This disease is characterized by choreoathretosis, mental retardation, self-mutilation, and excessive serum levels of uric acid (Kelly and Wyngaarden 1983). HPRT deficiency is relatively common (1 case per 100,000 live births) due to the X linkage of the gene encoding the enzyme. Carriers of a mutation at one of their HPRT alleles are phenotypically normal. The enzyme is found in all tissues of normal individuals, with its highest levels found in the basal ganglia (Kelly and Wyngaarden 1983).
The deficiency of adenosine deaminase (ADA), an autosomally inherited defect in purine metabolism, leads to severe combined immune deficiency (Giblett et al. 1972; Kredich and Herschfield 1983). This is a rare genetic disease...
