excessCID

ExcessCID, or Excessive Congenital Insulin-dependent Diabetes, is a rare genetic disorder characterized by the complete absence of insulin production from birth. It is a form of type 1 diabetes that is present at birth, rather than developing later in life. The condition is caused by mutations in the INS gene, which encodes for the proinsulin protein, a precursor to insulin.

Individuals with ExcessCID typically require lifelong insulin therapy to manage their blood glucose levels. The diagnosis is usually made through newborn screening programs, which test for elevated blood glucose levels in newborns. Genetic testing can confirm the diagnosis by identifying mutations in the INS gene.

The prognosis for individuals with ExcessCID is generally good with proper management. Regular monitoring of blood glucose levels and adjustment of insulin therapy as needed are essential for maintaining good health. However, complications such as diabetic ketoacidosis can occur if blood glucose levels are not well-controlled.

ExcessCID is a rare condition, with an estimated prevalence of less than 1 in 100,000 live births. It is important for healthcare providers to be aware of this condition and to consider it in the differential diagnosis of newborns with elevated blood glucose levels. Early diagnosis and treatment can help prevent long-term complications and improve quality of life for individuals with ExcessCID.