Synonyms: Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | Hyperinsulinism due to SCHAD deficiency | Hyperinsulinism due to glutamodehydrogenase deficiency | SCHAD deficiency
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death and in one case fulminant hepatic failure.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2026
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Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency?
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Advocacy Organizations
Access to Life NGO
Access to Life is Ukraine’s first patient advocacy organization for rare genetic epilepsies, anchored in Dravet syndrome and SCN1A-related conditions. We support 600+ families nationwide, advocate for a national clinical protocol and drug access, and are building Ukraine’s National Patient Resource Centre and Patient Registry for genetic epilepsies.
Congenital Hyperinsulinism International
CHI is the leading organization dedicated to improving the lives of people with hyperinsulinism (HI). HI is a life-threatening disorder that causes dangerously low blood sugar levels due to the over-production of insulin. Prolonged or severe low blood sugar can cause seizures, brain damage, and even death. CHI supports research toward better treatments and a cure, tirelessly advocates for timely diagnosis and improved standards of care, and supports people living with HI every step of the way.
Genetic Epilepsy Team Australia
Collaboration of research and care
Legacy Bridges Foundation, Inc
The Legacy Bridges Foundation, Inc. is a 501(c)3 non-profit organization founded to bridge the gap to support, educate and advocate for individuals, families and caregivers of those living with epilepsy and other seizure related disorders. The Legacy Bridges Foundation, Inc. is dedicated to helping champions live a sustainable life through participation of essential supportive programs and service
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
MitoAction
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
Organic Acidemia Association
Our mission is to empower families and health care professionals with knowledge in these disorders. We support early intervention through expanded newborn screening, solicit contributions, and distribute funding that supports research toward improved treatment, and eventual cures in the areas of Organic Acid disorders.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.