Mevalonate Kinase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.

**Synonyms:** - HIDS - Hyperimmunoglobulin D with Periodic Fever Syndrome - MKD - Mevalonic Aciduria