Hypoxanthine
Hypoxanthine is a naturally occurring purine derivative and a key component in the metabolic pathway of genetic material in the body. It is an intermediate in the degradation of adenosine monophosphate to uric acid, being formed by the oxidation of adenine.
Biochemical Role[edit | edit source]
Hypoxanthine is a crucial part of the purine salvage pathway, which recycles purines from degraded DNA to be reused in new DNA. It is converted to inosine monophosphate (IMP) via the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which is then converted to either adenosine monophosphate (AMP) or guanosine monophosphate (GMP). This process is essential for the production of all nucleic acids.
Clinical Significance[edit | edit source]
Hypoxanthine is also a key player in the production of uric acid. High levels of hypoxanthine can lead to an excess of uric acid, which can cause gout, a painful condition characterized by the deposition of monosodium urate crystals in joints and other tissues.
In addition, mutations in the gene coding for HGPRT can lead to Lesch-Nyhan syndrome, a rare inherited disorder characterized by self-mutilation, mental retardation, and gout.
See Also[edit | edit source]
References[edit | edit source]
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