Rare Disease Daily #16: 18 Hydroxylase Deficiency
T-MINUS 274 DAYS UNTIL RARE DISEASE DAY
The National Center for Advancing Translational Sciences describes CMO 1/18 Hydroxylase Deficiency as a disorder developing from two copies of an abnormal gene passing down a family line or, in an autosomal recessive manner. In this case, the “abnormal gene” lies within the penultimate biochemical step of aldosterone biosynthesis, which is the process where aldosterone (a steroid hormone) is “sythesized and secreted from the outer layer of the adrenal cortex” which is triangular glands right above both kidneys. Fun fact: the main role of aldosterone is to regulate sodium homeostasis, which helps control blood volume and blood pressure. Going back now to CMO 1 Deficiency now that we know about this enzymatic defect, we can see that it results in aldosterone not being detectable, whereas its immediate precursor, 19-HB, is low or normal. This can cause decreased aldosterone and salt-wasting. Symptoms can include poor feeding, vomiting, dehydration, intermittent fever,
The prevalence of this disease is unknown, or at least hard to find on my end. This disease is tripping me up a little bit because Orphanet, a common source for me that offers disease reports in various languages (though is in some ways lacking in it’s equity in describing some experiences and symptoms, as all websites have work to do in that regard, it’s why this program exists), once had a page for this disorder, now marked with an all-caps OBSOLETE along with a link to a completely different disorder that doesn’t really add up to me. I wish there was a clearer answer on this one, I’m sorry if there is and I just hadn’t found it yet at the time of recording this, though I’m very open to edits for the English and Spanish reports of this that are going up on my website, if anyone has org recommendations or leads on the history of this disease.
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 gendered will be neutralized to the best of my ability.
English and Spanish transcripts available at yannickmirko.com.
This was Rare Disease Daily #16, CMO 1/18 Hydroxylase Deficiency.
I’m yannick-robin. Thank you for your time.