MODY 1

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

MODY 1
Synonyms	HNF4A-MODY, Hepatocyte nuclear factor 4 alpha maturity onset diabetes of the young
Pronounce	N/A
Specialty	N/A
Symptoms	Hyperglycemia, polyuria, polydipsia, weight loss
Complications	Diabetic complications, cardiovascular disease
Onset	Typically in adolescence or early adulthood
Duration	Chronic
Types	N/A
Causes	Mutations in the HNF4A gene
Risks	Family history of diabetes, genetic predisposition
Diagnosis	Genetic testing, blood glucose tests
Differential diagnosis	Type 1 diabetes, Type 2 diabetes, other forms of MODY
Prevention	N/A
Treatment	Dietary management, oral hypoglycemic agents, insulin therapy
Medication	Sulfonylureas, insulin
Prognosis	Generally good with proper management
Frequency	Rare, accounts for a small percentage of all diabetes mellitus cases
Deaths	N/A

MODY 1 (Maturity Onset Diabetes of the Young type 1) is a form of monogenic diabetes that is characterized by an autosomal dominant inheritance pattern. It is one of the several types of MODY, which are caused by mutations in a single gene that affect insulin production or secretion.

Genetic Basis

MODY 1 is caused by mutations in the HNF4A gene, which encodes the hepatocyte nuclear factor 4 alpha. This gene plays a crucial role in the regulation of insulin secretion and glucose metabolism. The mutation leads to impaired insulin secretion, resulting in hyperglycemia.

Clinical Features

Patients with MODY 1 typically present with mild to moderate hyperglycemia at a young age, often before the age of 25. Unlike type 1 diabetes, MODY 1 does not usually require insulin therapy initially, and patients may be managed with oral hypoglycemic agents.

Diagnosis

The diagnosis of MODY 1 is confirmed through genetic testing, which identifies mutations in the HNF4A gene. Family history is also an important factor, as MODY 1 follows an autosomal dominant pattern, meaning that a single copy of the mutated gene can cause the disorder.

Management

Management of MODY 1 involves lifestyle modifications, such as diet and exercise, and the use of oral hypoglycemic agents like sulfonylureas. In some cases, insulin therapy may be required as the disease progresses.

See also

• MODY 2
• MODY 3
• Type 1 diabetes
• Type 2 diabetes
• Genetic testing