Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus is a type of diabetes that typically appears within the first 6 months after birth (the neonatal period) and continues throughout life. Diabetes is characterized by high levels of glucose in the blood, also called blood sugar. In infants with permanent neonatal diabetes mellitus, diabetes results from a shortage or absence of the hormone insulin. Insulin is produced by the pancreas. It helps move glucose from the blood into cells, where glucose is converted into energy.

The signs and symptoms of permanent neonatal diabetes mellitus can vary among affected individuals. Infants with this condition typically have abnormally high levels of glucose in the blood, glucose in the urine, severe fluid loss (dehydration), and a history of slow growth before birth (intrauterine growth retardation). After birth, affected infants may also have difficulty gaining weight and growing at the expected rate (failure to thrive).

A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes in addition to insulin, affected individuals may also experience digestive problems, such as fatty stools and an inability to absorb fat-soluble vitamins.

The long-term complications of permanent neonatal diabetes mellitus can include kidney disease and retinopathy, which is damage to the small blood vessels in the specialized light-sensitive tissue that lines the back of the eye (retina). The risk of long-term complications is reduced with proper diabetes management.