Dr. Zikánová presents a case report on a new nonsense variant in the ADSL gene that led to a severe prenatal form of ADSL deficiency in a non-viable fetus. Despite normal initial genetic tests, functional studies revealed that the mother's seemingly benign synonymous variant was, in fact, pathogenic. This discovery, which was uploaded to a public variant database, allows for potential prenatal and preimplantation genetic diagnosis in families with this variant, demonstrating

Dr. Sanquer presents findings from a study on the treatment of ADSL Deficiency with Allopurinol, highlighting improvements in younger and less severely impacted patients. The study showed a positive clinical and biological response to allopurinol in some patients, with reduced agitation and hyperactivity noted. Participants discussed the potential benefits and side effects of allopurinol for young children with mild ADSLD. Neither this post nor the above video constitutes med

Natalie Watson shares her experience as a Rare Bird mom from Australia in a discussion about loving, losing and honoring the legacy of her late sons, William and Hamish, who were diagnosed with ADSL Deficiency in 2010. Interspersed with Rare Birds community poll results, the conversation delves into topics including early signs of the disorder, the creation of the Facebook Support Group “Our Journey with ADSL Deficiency” and how it has advanced research into the disorder, pav