MODY 4

MODY 4 is a form of Maturity onset diabetes of the young (MODY), which is a group of inherited forms of diabetes mellitus. It is caused by mutations in the PDX1 gene.

Overview

MODY 4 is a rare form of MODY, with fewer than 1% of all MODY cases being MODY 4. It is characterized by the onset of hyperglycemia at an early age (often before 25 years of age), a primary defect in insulin secretion and a strong inheritance pattern.

Causes

MODY 4 is caused by mutations in the PDX1 gene. This gene provides instructions for making a protein that is involved in the development of the pancreas. The PDX1 protein also helps regulate the production of insulin, a hormone that controls blood sugar levels.

Symptoms

The symptoms of MODY 4 are similar to those of other forms of diabetes, including frequent urination, excessive thirst, fatigue, blurred vision, and weight loss. However, because MODY 4 often develops at a young age, these symptoms may be mistaken for those of type 1 diabetes.

Diagnosis

The diagnosis of MODY 4 is based on the presence of persistent hyperglycemia, a family history of diabetes, and the identification of a mutation in the PDX1 gene. Genetic testing is necessary to confirm the diagnosis.

Treatment

The treatment of MODY 4 involves managing blood sugar levels through a combination of diet, exercise, and medication. Some people with MODY 4 may require insulin injections.

See also

• Maturity onset diabetes of the young
• Diabetes mellitus
• PDX1

References

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