We present a case of co-created and family-organization driven research in the family organization Ketotic Hypoglycemia International, from the establishment of the organization to the scientific publication. This is the first demonstration of a possible high prevalence of ketotic hypoglycemia (KH) in Down syndrome (DS). Even though this finding needs to be confirmed in other research settings, identification of KH in DS could have a dramatic impact, as simple treatments with cornstarch, protein and frequent meals may prevent KH attacks and, analogous to other conditions with KH, improve growth, stamina and prevent overeating and obesity. GYG2 deletion may contribute to KH in DS, resembling glycogen storage disease type 0.
Methods
A review of the membership of KHI revealed an unexpectedly high number of children with Down syndrome (DS; OMIM#190685), which prompted us to initiate a web-based survey on KH in DS. We conducted a web-based survey on KH in DS through the non-profit patient organization Ketotic Hypoglycemia International. The responses were evaluated for consistency with KH by two authors. Two DS patient histories with documented KH were shared in more details.
Results
Survey data on 139 DS patients were obtained. After validation,10 patients (7.2%) had reported episodes of documented hypoglycemia, ketosis, and/or symptoms compatible with KH beyond the neonatal period. Glucose concentrations ranged 1.2-2.9 mmol/L; betahydroxybutyrate was up to 5.5 mmol/L during hypoglycemia. One girl had trisomy 21 with no response to i.m. glucagon also had a heterozygous Xp22.23 deletion includingGYG2, which protein, glycogenin 2, is a substrate for glycogen synthase. Treatment with extended-release cornstarch was effective.
Conclusion
This is the first demonstration of a possible high prevalence of KH in DS. Even though this finding needs to be confirmed in other research settings, identification of KH in DS could have a dramatic impact, as simple treatments with cornstarch, protein, and frequent meals may prevent KH attacks and, analogous to other conditions with KH, improve growth, stamina and prevent overeating and obesity. GYG2deletion may contribute to KH in DS, resembling glycogen storage disease type 0.
A new way of doing research
Our research is an example of a family-run patient organization driven and co-produced research, where novel observations may arise, not firstly caught by the health care system. This story can
inspire others to adopt this aproach to health researh within research and patient groups.
Read the full article here: https://onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12241
Source: Drachmann, D, Carrigg, A, Weinstein, DA, Petersen, JS, Christesen, HT. Ketotic hypoglycemia in patients with Down syndrome. JIMD Reports. 2021; 62( 1): 70- 73. https://doi.org/10.1002/jmd2.12241
