Mevalonate kinase deficiency
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency (pronounced meh-vuh-LOH-nayt KY-nays deh-FISH-en-see) is a rare genetic disorder characterized by periodic episodes of fever and systemic inflammation. It is also known as Hyperimmunoglobulinemia D syndrome or HIDS.
Etymology
The term "Mevalonate" is derived from the name of the enzyme, Mevalonate kinase, which is deficient in this disorder. "Kinase" is a type of enzyme that transfers phosphate groups from high-energy donor molecules to specific substrates, a process known as phosphorylation. "Deficiency" refers to the lack or shortage of something.
Symptoms
The primary symptom of Mevalonate kinase deficiency is recurrent episodes of fever. These episodes are often accompanied by additional symptoms such as abdominal pain, diarrhea, joint pain, and skin rash. The severity and duration of these episodes can vary widely among affected individuals.
Causes
Mevalonate kinase deficiency is caused by mutations in the MVK gene. This gene provides instructions for making an enzyme called mevalonate kinase, which plays a key role in the production of cholesterol and other important substances in the body. Mutations in the MVK gene reduce the activity of mevalonate kinase, disrupting the production of these substances and leading to the symptoms of Mevalonate kinase deficiency.
Diagnosis
Diagnosis of Mevalonate kinase deficiency is based on the characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized laboratory testing. Genetic testing can confirm a diagnosis.
Treatment
There is currently no cure for Mevalonate kinase deficiency. Treatment is symptomatic and supportive, and may include medications to reduce inflammation and manage fever episodes.
Related Terms
External links
- Medical encyclopedia article on Mevalonate kinase deficiency
- Wikipedia's article - Mevalonate kinase deficiency
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