Hypoxanthine

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Hypoxanthine (pronounced: hi-POK-san-theen) is a naturally occurring purine derivative and a key component in the metabolic pathway of genetic material like DNA and RNA. It is also a significant part of the structure of ATP (adenosine triphosphate), a molecule that stores and transfers energy in cells.

Etymology

The term "Hypoxanthine" is derived from the Greek words 'hypo' meaning 'under' and 'xanthos' meaning 'yellow'. This is due to the yellowish color of the crystals when it is in its pure form.

Biochemical Role

Hypoxanthine plays a crucial role in the purine metabolic pathway. It is produced by the deamination of adenine, and it can be converted back to adenine or to guanine through the action of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT).

In the salvage pathway, hypoxanthine is recycled to form inosine monophosphate (IMP), which is then converted into AMP or GMP. This process is essential for the synthesis of nucleic acids and proteins.

Clinical Significance

Hypoxanthine is a significant factor in several medical conditions. In Lesch-Nyhan syndrome, a genetic disorder, there is a deficiency of HGPRT, leading to an accumulation of hypoxanthine. This can cause a variety of symptoms, including intellectual disability, self-mutilation, and gout.

In addition, hypoxanthine is a marker for ischemic conditions, as its levels increase in tissues deprived of oxygen. It is also used in the diagnosis of HGPRT deficiency and in the assessment of the severity of gout.

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