What happens when HPRT is missing?

GaleEncyofMedicine ∙

Lvl 1

∙ 14y ago

Updated: 8/19/2019

Absence of the HPRT enzyme activity is also thought to alter the chemistry of certain parts of the brain, such as the basal ganglia, affecting neurotransmitters (chemicals used for communication between nerve cells), acids, and other chemicals.

Wiki User

∙ 14y ago

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What does HPRT do?

HPRT catalyzes a reaction that is necessary to prevent the buildup of uric acid, a nitrogenous waste product that is ordinarily excreted from the body through the kidneys. A severe mutation in the HPRT gene leads to an absence of HPRT enzyme activity =

What causes Lesch-Nyhan syndrome?

The syndrome is caused by a severe change (mutation) in the HPRT gene . Since the HPRT gene is located on the X chromosome, Lesch-Nyhan syndrome is considered an X-linked disorder and therefore only affects males.

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