Mevalonate Kinase Deficiency (MKD) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme mevalonate kinase. This enzyme is responsible for the conversion of mevalonate, an intermediate in the cholesterol biosynthesis pathway, into mevalonate 5-phosphate. Without this enzyme, mevalonate accumulates in the body, leading to a variety of symptoms including recurrent fever, rash, joint pain, and organ inflammation. MKD is usually diagnosed in infancy or early childhood and is treated with dietary modifications and medications to reduce inflammation.

The symptoms of Mevalonate Kinase Deficiency (MKD) vary from person to person, but can include:

-Fever
-Fatigue
-Joint pain
-Muscle pain
-Rash
-Enlarged lymph nodes
-Abdominal pain
-Liver and/or spleen enlargement
-Anemia
-Low blood platelet count
-Impaired immune system
-Developmental delays
-Seizures
-Behavioral problems
-Growth delays
-Hearing loss
-Vision problems

Mevalonate Kinase Deficiency (MKD) is an inherited disorder caused by mutations in the MVK gene. This gene provides instructions for making an enzyme called mevalonate kinase, which is involved in the production of cholesterol and other molecules that are important for normal cell function. Mutations in the MVK gene lead to a deficiency of mevalonate kinase, which disrupts the production of cholesterol and other molecules, resulting in the signs and symptoms of MKD.

The primary treatment for Mevalonate Kinase Deficiency is supportive care. This includes monitoring of symptoms, physical therapy, occupational therapy, speech therapy, and nutritional support. Other treatments may include medications to reduce inflammation, antibiotics to treat infections, and enzyme replacement therapy. In some cases, a bone marrow transplant may be recommended.

1. Inheritance: Mevalonate Kinase Deficiency is an autosomal recessive disorder, meaning that it is inherited from both parents.

2. Ethnicity: Mevalonate Kinase Deficiency is more common in certain ethnic groups, such as Ashkenazi Jews, Arabs, and Italians.

3. Age: Mevalonate Kinase Deficiency is more common in infants and young children.

4. Exposure to certain medications: Certain medications, such as statins, can increase the risk of developing Mevalonate Kinase Deficiency.

Yes, there is a medication available for Mevalonate Kinase Deficiency. The medication is called Ravulizumab-cwvz, and it is used to reduce the symptoms of the condition. It is administered intravenously every 8 weeks. Additionally, dietary changes and supplements may be recommended to help manage the symptoms of the condition.