Summary

Article Metadata

Lesch-Nyhan Syndrome: Rare Genetic Disorder

This is a the United States news story, published by Live Science, that relates primarily to HPRt1 news.

the United States news

For more the United States news, you can click here:

more the United States news

HPRt1 news

For more HPRt1 news, you can click here:

more HPRt1 news

biology news

For more biology news, you can click here:

more biology news

Live Science news

For more news from Live Science, you can click here:

more news from Live Science

About the Otherweb

Otherweb, Inc is a public benefit corporation, dedicated to improving the quality of news people consume. We are non-partisan, junk-free, and ad-free. We use artificial intelligence (AI) to remove junk from your news feed, and allow you to select the best science news, business news, entertainment news, and much more. If you like biology news, you might also like this article about

Nyhan syndrome

. We are dedicated to bringing you the highest-quality news, junk-free and ad-free, about your favorite topics. Please come every day to read the latest mutant HPRT1 gene news, excess uric acid news, biology news, and other high-quality news about any topic that interests you. We are working hard to create the best news aggregator on the web, and to put you in control of your news feed - whether you choose to read the latest news through our website, our news app, or our daily newsletter - all free!

rare genetic disorder

Live Science

•

Science

The rare genetic condition that triggers uncontrollable movements and self-injury

Summary

Nutrition label

83% Informative

Approximately 1 in 380,000 babies born in the United States are estimated to have the condition.

Lesch-Nyhan syndrome is caused by mutations in a gene called HPRT1 .

This gene carries instructions for an enzyme to recycle important chemical compounds called purines.

In patients with the condition, the HPRt1 enzyme doesn't work properly due to mutations in its associated gene.

Therefore, cells cannot recycle purines as they normally would, and a waste product called uric acid clumps into small stones or crystals in the body.

The main symptoms of the condition are associated with inflammatory arthritis.

VR Score

Informative language

Neutral language

Article tone

semi-formal

Language

English

Language complexity

Offensive language

possibly offensive

Hate speech

not hateful

Attention-grabbing headline

not detected

Known propaganda techniques

not detected

Time-value

long-living

External references

https://bestpractice.bmj.com/topics/en-gb/1192 https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/https://www.sciencedirect.com/science/article/abs/pii/S0306987798901761 https://pmc.ncbi.nlm.nih.gov/articles/PMC3507438/https://pmc.ncbi.nlm.nih.gov/articles/PMC2740985/https://www.ncbi.nlm.nih.gov/books/NBK507704/https://pmc.ncbi.nlm.nih.gov/articles/PMC10138451/https://www.ncbi.nlm.nih.gov/books/NBK6271/https://www.mountsinai.org/health-library/diseases-conditions/lesch-nyhan-syndrome https://www.ncbi.nlm.nih.gov/books/NBK556079/https://www.hct.nhs.uk/aspiration-pneumonia/https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.868942/full https://rarediseases.org/rare-diseases/lesch-nyhan-syndrome/https://medlineplus.gov/genetics/gene/hprt1/https://my.clevelandclinic.org/health/diseases/23493-lesch-nyhan-syndrome https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome https://pmc.ncbi.nlm.nih.gov/articles/PMC9305801/

Source diversity

bestpractice.bmj.com medlineplus.gov www.sciencedirect.com pmc.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov www.mountsinai.org www.hct.nhs.uk www.frontiersin.org rarediseases.org my.clevelandclinic.org rarediseases.info.nih.gov

Affiliate links

no affiliate links

Read full article

Small business owner?