A rare form of diabetes caused by a mutation in the insulin gene. Why, who and what are the consequences?
Neonatal diabetes is a form of diabetes that occurs in the first 6-12 months of life.
Neonatal diabetes mellitus and MODY diabetes (adult-type diabetes mellitus in young adults) are the two main forms of monogenic diabetes. Monogenic diabetes mellitus caused by a mutation in the insulin gene. While neonatal diabetes mellitus develops in the first 6–12 months of life, MODY first appears in adolescence or early adulthood. MODY is also much more common.
Neonatal diabetes is considered a rare disease. It causes babies to not produce enough insulin, resulting in high blood glucose levels. This form of diabetes is often mistaken for type 1 diabetes, but type 1 diabetes is very rarely seen before the age of 6 months.
Diabetes that occurs in the first 6 months of life almost always has a genetic cause. Researchers have identified a number of specific genes and mutations that can cause neonatal diabetes mellitus. Approximately half of patients have diabetes mellitus for life and is called permanent neonatal diabetes. In the remaining patients, this condition is temporary or transient – it disappears in infancy, but may appear later.
The clinical features of neonatal diabetes mellitus depend on human gene mutations. Signs include frequent urination, rapid breathing, and dehydration. This type of diabetes can be diagnosed by detecting elevated levels of glucose in the blood or urine. Lack of insulin can lead to an increase in ketones and to diabetic ketoacidosis .
Most babies with neonatal diabetes do not grow well in the womb and are much smaller at birth. This condition is called intrauterine growth restriction. After birth, some babies cannot gain weight and grow as fast as other babies of the same age and gender. Appropriate therapy can improve and normalize growth and development.