What is mevalonate kinase deficiency?

Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disorder. Autoinflammatory syndromes are a group of disorders characterized by seemingly random or unprovoked episodes of inflammation generally due to an abnormality of the innate immune system.

What does mevalonate kinase do?

Mevalonate kinase is a metabolic enzyme involved in cholesterol biosynthesis which catalyzes the conversion of mevalonate to phosphomevalonate, the precursor of cholesterol and many natural products.

How do you treat Hids?

Because HIDS is genetic, you can’t cure it. But there are treatments to help with symptoms. You can take non-steroidal anti-inflammatory drugs (NSAIDs) during an episode to help deal with pain. These include ibuprofen and naproxen.

What is Hyper IgD syndrome?

Hyper-IgD syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. Episodes usually last 4 to 6 days and may be triggered by physiologic stress, such as vaccination or minor trauma.

How do you diagnose hid?

They may ask for these tests:

  1. Blood test. It can show if you have high levels of IgD.
  2. Urine test. Your urine may show high levels of mevalonic acid during an episode.
  3. Genetic test. Your doctor will ask you to see a genetic specialist to be sure you have HIDS.

Why is urinary excretion of mevalonate consistent with a deficiency of mevalonate kinase?

Objective: In patients suffering from mevalonate kinase deficiency (MKD), the reduced enzyme activity leads to an accumulation of mevalonic acid which is excreted in the urine.

What is the MVK gene?

The MVK gene provides instructions for making the mevalonate kinase enzyme. This enzyme converts a substance called mevalonic acid into mevalonate-5-phosphate. This conversion is the second step in a pathway that produces cholesterol. The cholesterol is later converted into steroid hormones and bile acids.

What is HID disease?

A highly infectious disease (HID) that is transmissible from person to person causes life-threatening illness and presents a serious hazard in the healthcare setting and in the community that requires specific control measures.

How common is HIDS disease?

HIDS (hyperimmunoglobulinemia D syndrome), also known as Mevalonate Kinase Deficiency (MKD) is a very rare autoinflammatory condition that usually starts in early childhood.

What is IgD deficiency?

Immunoglobulin D (IgD) deficiency is a defect of humoral immunity that is characterized by abnormally low serum levels of IgD immunoglobulins. Little is known about the normal function of IgD, and few clinical signs or symptoms are associated with its absence.

What is mevalonic aciduria?

Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy.