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Lesch-Nyhan Syndrome: Rare Genetic Disorder

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

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rare genetic disorder
Live Science

Live Science

•

Science

Science

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

Live Science
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

78

Informative language

75

Neutral language

57

Article tone

semi-formal

Language

English

Language complexity

58

Offensive language

possibly offensive

Hate speech

not hateful

Attention-grabbing headline

not detected

Known propaganda techniques

not detected

Time-value

long-living

External references

17

https://bestpractice.bmj.com/topics/en-gb/1192https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/https://www.sciencedirect.com/science/article/abs/pii/S0306987798901761https://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-syndromehttps://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/fullhttps://rarediseases.org/rare-diseases/lesch-nyhan-syndrome/https://medlineplus.gov/genetics/gene/hprt1/https://my.clevelandclinic.org/health/diseases/23493-lesch-nyhan-syndromehttps://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndromehttps://pmc.ncbi.nlm.nih.gov/articles/PMC9305801/

Source diversity

11

bestpractice.bmj.commedlineplus.govwww.sciencedirect.compmc.ncbi.nlm.nih.govwww.ncbi.nlm.nih.govwww.mountsinai.orgwww.hct.nhs.ukwww.frontiersin.orgrarediseases.orgmy.clevelandclinic.orgrarediseases.info.nih.gov

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