Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls.
This month, we are featuring Lesch-Nyhan syndrome (LNS). LNS is an X-linked disorder caused by a mutation in the gene, HPRT1, which plays a critical role in the body’s ability to process purines. With the recycling of purines involved in the production of uric acid, this deficiency or complete lack of function in the HPRT1 gene in individuals with LNS results in excess amounts of uric acid in the body. This buildup of uric acid has many toxic effects on the body, contributing to a variety of neurological and behavioral issues. Perhaps most notably, individuals with LNS suffer from self-mutilative behaviors that tend to manifest around the age of two or three.
Today, we are bringing on Gaby Ponce. Gaby Ponce is from Mexico and mother to Antonio, who has Lesch-Nyhan syndrome. She is the director of the Fundación Amor y Fuerz Lesch Nyhan. The foundation supports 11 families here in Mexico and helps them access medication, rehab therapy online, checkups every six months with a nephrologist and neurologist, dental extraction surgeries, wheelchairs, and more. They work with Love Never Sinks in the United States and Lesch Nyhan Action in France to advocate for a gene therapy treatment.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
