T-MINUS 259 DAYS UNTIL RARE DISEASE DAY
The National Center for Advancing Translational Sciences unfortunately doesn’t describe 2-hydroxyethyl methacrylate sensitization as anything, nor do many other resources I go to to make this program. I am saddened to know there is not a way for others to become aware of this in detail right now, so as soon as the information starts to become discovered through research, I will update accordingly. For now, we will move on to naming the next disease up on our list, 2-Hydroxyglutaric aciduria, which is described by the NIH and Orphanet as a condition that causes progressive damage to the brain. It is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.The major types of this disorder are called D-2-Hydroxyglutaric aciduria (D-2-HGA), L-2-Hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-Hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA vary within the different types but, in general, may include delayed development; seizures; weak muscle tone (hypotonia); and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
The prevalence of this disease is unknown, with its onset most commonly appearing during childhood - around the ages of 2-11 - and the syndrome only being diagnosed in less than 300 patients worldwide, to date.
There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.
Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally offensive in the studies regarding these disorders will be neutralized to the best of my ability.
English and Spanish transcripts available at yannickmirko.com.
This was Rare Disease Daily #22, 2-hydroxyethyl methacrylate sensitization + 2-Hydroxyglutaric aciduria.
I’m yannick-robin. Thank you for your time.