About Mevalonic aciduria

What is Mevalonic aciduria?

Mevalonic aciduria is a rare genetic disorder caused by a deficiency of the enzyme mevalonate kinase. This enzyme is responsible for the breakdown of mevalonic acid, a precursor of cholesterol and other important molecules. People with mevalonic aciduria experience a wide range of symptoms, including developmental delays, seizures, and movement disorders. In some cases, the disorder can be fatal. Treatment typically involves dietary changes and supplementation with mevalonate and other vitamins and minerals.

What are the symptoms of Mevalonic aciduria?

The symptoms of Mevalonic aciduria vary from person to person, but may include:

-Developmental delay
-Growth retardation
-Intellectual disability
-Seizures
-Feeding difficulties
-Hepatomegaly (enlarged liver)
-Hyperammonemia (elevated ammonia levels in the blood)
-Hypoglycemia (low blood sugar)
-Hypotonia (low muscle tone)
-Hyperbilirubinemia (elevated bilirubin levels in the blood)
-Hypertriglyceridemia (elevated triglyceride levels in the blood)
-Hyperuricemia (elevated uric acid levels in the blood)
-Hypercholesterolemia (elevated cholesterol levels in the blood)
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What are the causes of Mevalonic aciduria?

Mevalonic aciduria is caused by a genetic mutation in the gene that encodes the enzyme mevalonate kinase, which is responsible for the production of mevalonic acid. This mutation results in a deficiency of the enzyme, leading to a buildup of mevalonic acid in the body. Other causes of Mevalonic aciduria include a deficiency of the coenzyme Q10, which is necessary for the production of mevalonic acid, and a deficiency of the enzyme phosphomevalonate kinase, which is responsible for the conversion of mevalonic acid into other compounds.

What are the treatments for Mevalonic aciduria?

1. Dietary management: A low-fat, low-protein diet is recommended to reduce the amount of mevalonate produced in the body.

2. Supplementation: Supplementation with mevalonate, mevalonolactone, and other related compounds may help to reduce the symptoms of mevalonic aciduria.

3. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme in the body.

4. Liver transplant: In some cases, a liver transplant may be necessary to replace the missing enzyme.

5. Gene therapy: Gene therapy may be used to replace the defective gene responsible for mevalonic aciduria.

What are the risk factors for Mevalonic aciduria?

1. Genetic mutations in the MVK gene
2. Consanguinity
3. Family history of Mevalonic aciduria
4. Exposure to certain environmental toxins
5. Certain medications, such as anticonvulsants and antibiotics
6. Advanced age
7. Low birth weight

Is there a cure/medications for Mevalonic aciduria?

There is currently no cure for Mevalonic aciduria. However, there are medications available to help manage the symptoms. These medications include enzyme replacement therapy, dietary supplements, and medications to help reduce the levels of mevalonic acid in the body.