Hyperinsulinism-hyperammonemia syndrome

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Hyperinsulinism-hyperammonemia syndrome

Synonyms: HI/HA syndrome

A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia may also occur. This disorder is usually responsive to diazoxide treatment.

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 May 2024

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Advocacy Organizations

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.

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.

flok Health (formerly National PKU News)

National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.

Clinical Trials

For a list of clinical trials in this disease area, please click here.