Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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 April 2024
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Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
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.
Moonshots for Unicorns
Curing single-gene disorders
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.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.