Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

A rare congenital isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.

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 Data version July 2024

Newly diagnosed with
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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