Mevalonate Kinase Deficiency

Overview

Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Mevalonate Kinase Deficiency

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.593|C15.378.147.542.319|C16.320.382.750|C16.320.565.189.593|C16.320.565.663.430|C18.452.132.100.593|C18.452.648.189.593|C18.452.648.663.430|C20.683.460.319

Preparing for an appointment about Mevalonate Kinase Deficiency

If you are speaking with a healthcare professional about Mevalonate Kinase Deficiency, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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