Natural History of the Hyperinsulinism/Hyperammonemia Syndrome: A Retrospective Review Incorporating Patient-Centered Data
Authors' conclusion
Our findings underscore the importance of longitudinal endocrine and neuropsychological follow-up for patients with HI/HA syndrome and demonstrate the potential value of patient-driven registry data to address persistent knowledge gaps in the natural history of rare diseases.
Study context
- Population
- Patients with hyperinsulinism/hyperammonemia (HI/HA) syndrome
- Participants
- 66 vs 15
- Exposure
- Medical record vs HI Global Registry (HIGR)
- Medical recordn = 66
- HIGRn = 15
- Outcome
- Treatment and neurodevelopmental outcomes
Methodological detailsmulticentre, patient-centered registry data
- Multicentre
- Patient-centered registry data
Main finding
As reported in the abstract
- Treated with diazoxide, medical record cohort
- 80%
- Treated with diazoxide, HIGR
- 82%
- Epilepsy, medical record cohort
- 29%
- Epilepsy, HIGR
- 33%
- Neurodevelopmental issues, medical record cohort
- 64%
- Neurodevelopmental issues, HIGR
- 73%
Observational data: associations, not effects.
Further findings
Age at last follow-up / survey completion
Original publication
Natural History of the Hyperinsulinism/Hyperammonemia Syndrome: A Retrospective Review Incorporating Patient-Centered Data. Horm Res Paediatr. Published 14 April 2026. doi:10.
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