Mevalonic Aciduria
Mevalonic Aciduria Definition
Mevalonic aciduria is classified as a congenital metabolic disorder, which disrupts the body's production of cholesterol and isoprenoids. The disorder is also known as mevalonate kinase deficiency.
Mevalonic Aciduria Diagnosis
In Mevalonic aciduria, mevalonic acid accumulates, which results from the mevalonate kinase deficiency. The accumulated mevalonic acid is detected in the urine.
Mevalonic Aciduria Symptoms and Signs
The disorder typically delays development and results in various dysmorphic features and mental retardation among other manifestations. The patient may also fail to thrive.