Mevalonate kinase deficiency

Synonyms: MKD, Hyper-IgD syndrome

Material:

EDTA blood
(1 ml)

TAT:

2-3 weeks

Method:

NGS, CNV, S-SEQ

Overview

Mevalonate kinase deficiency (MKD) is caused by reduced mevalonate kinase enzyme activity, leading to recurrent autoinflammatory fever episodes of variable severity. The clinical spectrum ranges from milder presentations to severe forms with progressive neurological involvement.

Mevalonate kinase deficiency

1 Gene(s)*

MVK

Clinical description

Frequency

Causes

Inheritance

Diagnosis

Role of genetic testing

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

Get in touch with us

Our team of experts is here to support you at every stage.

Your role *

Please select the option that best describes you.

FIRST NAME *

Please enter your first name.

LAST NAME *

Please enter your last name.

PHONE

Providing your phone number is optional and helps us contact you more quickly if needed.

EMAIL ADDRESS *

Please enter a valid email address

Country *

Please provide your country of residence. This information is required to route your request to the appropriate sales representative based on your location.

ORGANISATION / INSTITUTION

Please enter your organisation / institution

MESSAGE / ADDITIONAL NOTES

Please do not enter sensitive health data or special categories of personal data here. If you need to share such information, please use a secure, separate communication channel, such as encrypted email, a protected patient portal or a confidential phone call.

Your data will be used solely for processing your inquiry. For more information on how we handle your personal data and your rights, please refer to our .