Overview
Mevalonate kinase deficiency (MKD) is a rare inherited metabolic condition caused by problems with the enzyme mevalonate kinase, which plays an important role in a chemical pathway called the mevalonate pathway. This pathway helps the body produce cholesterol and other essential molecules. When this enzyme does not work properly, it triggers repeated episodes of inflammation throughout the body. MKD is also known by other names including hyperimmunoglobulinemia D syndrome (HIDS) and, in its most severe form, mevalonic aciduria (MVA). The hallmark of MKD is recurrent febrile episodes — attacks of high fever that typically last 3 to 7 days and come back every few weeks. These fever episodes often start in infancy or early childhood and are accompanied by swollen lymph nodes, abdominal pain, joint pain, skin rashes, and mouth sores. In the milder form (HIDS), patients may have a relatively normal life between attacks, though the episodes can be very disruptive. In the severe form (mevalonic aciduria), children may also experience developmental delays, failure to thrive, eye problems, and more constant symptoms. Treatment has improved significantly in recent years. While there is no cure, biologic medications that block the inflammatory molecule interleukin-1 (IL-1), such as canakinumab and anakinra, have become the standard of care and can dramatically reduce the frequency and severity of fever attacks. Supportive care during episodes, including anti-inflammatory medications like NSAIDs, is also commonly used. Early diagnosis and treatment can greatly improve quality of life.
Also known as:
Key symptoms:
Recurring high fevers lasting several daysSwollen lymph nodes, especially in the neckAbdominal pain and crampingDiarrhea or vomiting during fever episodesJoint pain and swellingSkin rashes during attacksMouth sores (oral ulcers)Headaches during fever episodesFatigue and feeling very unwell during attacksEnlarged liver or spleenFailure to thrive or poor growth in severe casesDevelopmental delays in severe casesEye inflammation or cataracts in severe casesMuscle painElevated IgD levels in the blood
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
2 eventsAssistance Publique - Hôpitaux de Paris
University Hospital, Motol — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Mevalonate kinase deficiency.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mevalonate kinase deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Does my child have the milder (HIDS) or more severe (mevalonic aciduria) form of MKD?,What treatment options are available, and would a biologic medication like canakinumab be appropriate?,What should I do at home when a fever attack starts, and when should I go to the emergency room?,Are vaccinations safe for my child, and should we take any special precautions?,How often should we have follow-up appointments and blood tests to monitor for complications like amyloidosis?,Are there any clinical trials or new treatments being studied that we should know about?,Should other family members be tested, and what does this mean for future pregnancies?
Common questions about Mevalonate kinase deficiency
What is Mevalonate kinase deficiency?
Mevalonate kinase deficiency (MKD) is a rare inherited metabolic condition caused by problems with the enzyme mevalonate kinase, which plays an important role in a chemical pathway called the mevalonate pathway. This pathway helps the body produce cholesterol and other essential molecules. When this enzyme does not work properly, it triggers repeated episodes of inflammation throughout the body. MKD is also known by other names including hyperimmunoglobulinemia D syndrome (HIDS) and, in its most severe form, mevalonic aciduria (MVA). The hallmark of MKD is recurrent febrile episodes — attacks
How is Mevalonate kinase deficiency inherited?
Mevalonate kinase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mevalonate kinase deficiency typically begin?
Typical onset of Mevalonate kinase deficiency is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Mevalonate kinase deficiency?
Yes — 1 recruiting clinical trial is currently listed for Mevalonate kinase deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Mevalonate kinase deficiency?
16 specialists and care centers treating Mevalonate kinase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.