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Mevalonic Acid - MedlinePlus Genetics

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Last Updated: 16 June 2022

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Mevalonate kinase deficiency

"There are two types of mevalonate deficiency, including a more severe form called hyperimmunoglobulinemia D syndrome and a more severe one called mevalonic aciduria. " During fever episodes, people with HIDS typically experience enlargement of the lymph nodes, abdominal pain, joint pain, diarrhea, skin rashes, and headache. People with HIDS, on the rare occasion, have a buildup of protein deposits in the kidneys that could lead to kidney disease. Immunizations, surgery, injury, or strain can lead to Fever episodes in people with HIDS. In the blood, most people with HIDS have abnormally high levels of immunoglobulin D and immunoglobulin A. Individuals with HIDS have no signs and symptoms of the condition associated with fever episodes, and most people have a normal life expectancy. People with MVA have signs and symptoms of the disease at any time, not just during episodes of fever. Eye problems such as inflammation of the eye, a blue tint in the white area of the eye, an eye condition called retinitis pigmentosa that causes vision loss, or clouding of the eye's lens can be caused by eye problems in childhood or adolescence. People with MVA may have an enlarged liver and spleen, lymphadenopathy, abdominal pain, diarrhea, and skin rashes during fever episodes. Children with MVA who are severely affected by multiple conditions may live only into early childhood; mildly affected individuals may have a healthy life expectancy. ".

Source link: https://medlineplus.gov/genetics/condition/mevalonate-kinase-deficiency

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions