Girls and Women
affected by LND
Affected Female Individuals
What Is Lesch–Nyhan Disease (LND)?
Lesch–Nyhan disease (LND) is a rare genetic condition caused by a change in a gene called HPRT1. This gene is located on the X chromosome and is responsible for helping the body recycle certain building blocks of DNA. When this gene does not work correctly, it leads to the features seen in LND.
How X Chromosomes Work
Girls typically have two X chromosomes—one from their mother and one from their father.
Boys typically have one X and one Y chromosome.
Because LND is linked to the X chromosome, the number of X chromosomes a person has plays an important role in how the condition affects them.
Why LND Usually Affects Boys
Boys have only one X chromosome. If that X chromosome carries the HPRT1 gene change, there is no second X chromosome to compensate, so boys are usually affected by LND.
Why Most Girls Are Not Affected
In girls, one X chromosome in each cell is naturally turned off during early development. This process is called X-inactivation.
If a girl has one affected X chromosome and one healthy X chromosome, many of her cells will still use the healthy copy. This usually allows enough enzyme to be made to prevent symptoms.
How Girls Can Be Affected
Although rare, girls can show symptoms of LND in certain situations, including:
Spontaneous (de novo) gene changes
The HPRT1 gene change can occur by chance during early development, even if neither parent is a carrier.Skewed X-inactivation
Sometimes the body turns off the healthy X chromosome more often than expected, leaving fewer cells able to make the needed enzyme.Problems with the second X chromosome
If the second X chromosome is missing, altered, or not fully functional, it may not compensate for the affected X chromosome.
Symptoms in girls can range from very mild to more significant and may look different from those seen in boys.
Life Stories of Affected Girls and Women with Lesch-Nyhan
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Lola
Why Symptoms Can Vary
LND affects individuals differently. The type of gene change, how much enzyme activity remains, and how X-inactivation occurs all contribute to variability in symptoms, especially in females.
Researchers continue to study these differences to better understand LND and improve care.
Ongoing Research and Education
Love Never Sinks – Lesch–Nyhan is committed to providing clear, accurate, and family-centered information as research evolves. We are actively working on resources that explain LND genetics in ways that support both families and clinicians.
Frequently Asked Questions
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Yes. LND is inherited in an X-linked pattern, but it can also occur due to a spontaneous (new) gene change.
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Boys have only one X chromosome. If it carries the LND gene change, there is no backup copy to compensate.
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Yes, although it is rare. Girls may have symptoms due to skewed X-inactivation, spontaneous mutations, or problems with the second X chromosome.
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The gene change can occur spontaneously during early development, even when neither parent is a carrier.
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No. Many girls are carriers without symptoms. When symptoms occur, they can range from mild to more significant and vary from person to person.
It is rare for an individual to be affected with classic Lesch-Nyhan. But it can happen.
Remember the Girls is an excellent reference for Women and Girls who are carriers of a X Chromosome related Disease
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Yes. Researchers continue to study why symptoms differ between individuals and how genetic mechanisms affect disease expression, especially in females.
The NIH currently has an ongoing study of Female Carriers of Lesch-Nyhan open to US and Canadian residents.