Living with Mevalonic aciduria
The severe form of mevalonate kinase deficiency, with repeated fevers from infancy, developmental delay, and other signs.
Understanding Mevalonic aciduria
During fevers, people may have an enlarged liver and spleen, swollen lymph nodes, belly pain, diarrhea, joint pain, and skin rashes. Ongoing issues include developmental delay, worsening unsteadiness, worsening vision, a small elongated head, and poor growth. The milder form is hyperimmunoglobulinemia D syndrome (HIDS).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fevers
- Developmental delay and intellectual disability
- Unsteady movement (ataxia)
- Small head (microcephaly)
- Cataracts
- Enlarged spleen and low muscle tone
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MVK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MVK gene cause too little of the enzyme mevalonate kinase. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: complete mevalonate kinase deficiency; hids; hyperimmunoglobulin d with periodic fever syndrome; meva; mevalonicaciduria; mkd
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mevalonic aciduria.
Explore research for Mevalonic aciduria
Explore actively recruiting Mevalonic aciduria studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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