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Towards Enhanced Understanding of Idiopathic Ketotic Hypoglycemia

Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress has been made to advance the understanding of IKH since the medical term was coined in 1964.

We aimed to review the literature on ketotic hypoglycemia (KH) and introduce a novel patient organization, Ketotic Hypoglycemia International (KHI).

In the Press

Medical textbooks must be rewritten about low blood sugar, urge experts and patients – EurekAlert

Published in: Orphanet Journal of Rare Diseases

Ketotic Hypoglycemia in Patients with Down Syndrome

Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the neonatal period. KH in Down syndrome (DS) has not been reported.

Published in: JIMD Reports

In the Press

After being dismissed by doctors, mom of child with Down syndrome makes a discovery” –

happy young boy with Downs syndrome in school

Ketotic Hypoglycemia in Patients with Down syndrome: An Example of Extreme Citizen Science in Biomedicine

Ketotic Hypoglycemia International’s citizen-driven project, sparked by their Facebook support group, exemplifies the power of citizen science in healthcare. This grassroots initiative connects families dealing with Down Syndrome and Ketotic Hypoglycemia (KH) and engages scientific experts. Together, they explore this unique condition, highlighting the crucial role of citizen science in uncovering novel health observations and driving research on issues initially overlooked by the healthcare system. This project showcases the potential of community-driven health research to advance our understanding of medical conditions.

Published in: Proceedings of Science

Other relevant papers

Hypoglycemia Guidelines

The Pediatric Endocrine Society has assembled a panel of experts to develop guidelines for managing hypoglycemia in neonates, infants, and children (excluding those with diabetes). 

These guidelines aim to help physicians recognize and diagnose persistent hypoglycemia disorders, ensuring effective treatment to prevent brain damage in at-risk infants during the critical early months of life.

Published in: The Journal of Pediatrics

Method Comparison of Beta-Hydroxybutyrate 

This study compared serum and point-of-care (POC) beta-hydroxybutyrate (BHB) levels in 94 healthy children after an overnight fast. The results showed a strong correlation between serum BHB and POC BHB values, with the majority falling within a close range. This suggests that POC BHB measurements are accurate and comparable to serum BHB levels in children following fasting, indicating their utility in medical evaluations and management of hypoglycemic conditions.

Published in: JIMD Reports

Exome Sequencing Revealed DNA Variants

Unexplained or idiopathic ketotic hypoglycemia (KH) is common in children, but its genetic basis remains unclear. This study analyzed ten preschool-aged KH patients and identified four new candidate genes associated with KH. These genes underlie distinct subtypes of KH and reveal its genetic complexity. Understanding these genetic factors may lead to precision medicine approaches for KH management.

Published in: Nature Research

Play Video


Idiopathic Ketotic Hypoglycemia (IKH) is a diagnosis of exclusion. This multicenter study focused on 12 children from eight families diagnosed or suspected of having IKH. Genetic testing using whole-exome sequencing identified both known and new pathogenic variants in the PHKA2 gene, associated with GSD IXa. 

Some patients had novel variants, and their enzyme activity was lower than normal. Presentation video here.

Published in: Amr. Journal of Medical Genetic

Eating and Psychosocial Challenges in IKH

This study examines the impact of eating and psychosocial challenges on patients with hepatic GSD and idiopathic ketotic hypoglycemia (IKH). It included 16 patients aged 3 to 24 years and identified Avoidant/Restrictive Food Intake Disorder in five patients, affecting their quality of life. The study also highlights psychosocial issues. Presentation video here.

Published in: JIMD Reports

Continuous Glucose Monitoring

This study analyzed continuous glucose monitoring (CGM) metrics in adult Glycogen Storage Disease Type Ia (GSDIa) patients compared to healthy volunteers. CGM sometimes overestimated glucose levels. GSDIa patients showed higher glycemic variability and time above target range but lower time in range. It’s the first such comparison, providing insights into CGM use and interpretation for GSDIa and guiding future research on CGM outcomes. Presentation video here.

Published in: JCEM

Extended Release Cornstarch

Glycogen Storage Disease Type I (GSD I) involves severe hypoglycemia during fasting. Extended release cornstarch was studied for its safety and efficacy in GSD I. A significant majority of 106 subjects showed efficacy with extended fasting periods. Long-term data from 44 subjects revealed improved fasting duration and stable metabolic control. This suggests that extended release cornstarch can enhance the quality of life for GSD I patients without compromising metabolic health and may improve safety by eliminating the need for overnight cornstarch doses. Presentation video here.

Published in: JCEM

Fasting Ketone Levels Vary by Age

This study measured fasting serum beta-hydroxybutyrate (BHB) concentrations in healthy children after an overnight fast. Results showed that children ≤3 years old had significantly higher BHB concentrations compared to older children. Fasting BHB levels >1.0 mmol/L were rare, suggesting a potential threshold for pathological ketotic hypoglycemia. Establishing normative ranges is crucial for distinguishing physiological from pathological ketosis in children. Presentation video here.

Published in: Journal of Pediatric Endocrinology

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