Classic galactosemia in patients occurs when an enzyme, ‘galactose 1-phosphate uridylyltransferase’ (GALT), is either missing or not working properly. Consequently, patients have an impaired ability to metabolize galactose, which could be derived from dietary or endogenous sources. Although the newborn screening programs and a galactose-restricted diet can satisfactorily treat the neonatal toxicity associated with the disease, these treatments/measures fail to prevent the long-term complications like developmental delay, speech difficulties, intellectual disability and primary ovarian insufficiency in females. Our recent studies on GALT-deficient mice demonstrated higher level of cellular stress due to the accumulation of toxic metabolites, which leads to downregulated growth signaling pathway in organs like brain and ovary. We recently showed cellular stress reducers can effectively reverse the reduced signaling pathways as well as maintains the ovarian reserve in GALT-deficient mice. These results open the door for a new therapeutic approach for the patients with Classic Galactosemia.
Within the galactosemia network (www.galactosemianetwork.org) , a web-based international patient Registry has been developed and implemented according to the standards set by the European Platform on Rare Diseases Registration. The registry build-up is similar to the RedCap registry developed for galactosemia in the USA. Aims of the registries are to delineate the clinical history of patients, to provide information on many different aspects of the galactosemias, to help generate new hypotheses based on a large dataset of patients, and ultimately to serve as a platform for clinical trials. A first analysis performed with data from 25 centers in Europe and USA will be presented.
13-1330G Transitions - The 3 R’s of Transition to Adulthood: Responsibility, Regulation, Relationships
Regulation, responsibility and relationships are critical for a teen or young adult to develop to be successful in their journey to independence. This session will cover how to effectively support young adults with intellectual and learning differences and how to use evidence-based strategies in real world settings to create success in college, employment and independent living. We will discuss strategies to improve self-regulation including self-management, problem solving and handling change; will review teaching responsibility through self-advocacy, making choices and goal setting, as well as growing relational skills to socialize and relate positively to peers and employers.
13-1330F What Have We Learned About Ovarian Function In Girls And Young Women With Classic Galactosemia?
We recently analyzed information and/or samples from 102 post-pubertal girls and young women with classic galactosemia to learn how ovarian insufficiency presented and progressed over time in this study population. We also tested candidate biomarkers of ovarian function to see if any associated with spontaneous menarche in this group; of the candidates tested only plasma Anti-Mullerian Hormone (AMH) was highly significant. To hear all the details and participate in the conversation please join us for this session.