Variants
Sign InSign Up

Hyperinsulinemic hypoglycemia, familial, 2

Your Results

Sign In

Description

Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.

MedlinePlus Genetics

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Heterogeneous
  • Autosomal recessive inheritance

VARIANTS

104

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    601820

  • Orphanet
  • HPO
  • Medgen

    C2931833

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.