This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Long, narrow head
Tall and narrow skull[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Mental retardation, nonspecific
Mental-retardation[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Low or weak muscle tone
Decreased body height
Small stature[ more ]
Increased spleen size
Face with broad temples and narrow chin
Triangular facial shape[ more ]
|30%-79% of people have these symptoms|
Whites of eyes are a bluish-gray color
Clouding of the lens of the eye
Cloudy lens[ more ]
|Low-set, posteriorly rotated ears||0000368|
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Agenesis of cerebellar vermis||0002335|
Degeneration of cerebellum
Degeneration of cerebrum
Water retention[ more ]
|Elevated hepatic transaminase||
High liver enzymes
|Elevated serum creatine kinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
|Failure to thrive||
Weight faltering[ more ]
Decreased muscle tone
Low muscle tone[ more ]
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
Low set ears
Lowset ears[ more ]
Swollen lymph nodes
Involuntary, rapid, rhythmic eye movements
|Posteriorly rotated ears||
Ears rotated toward back of head
|Progressive cerebellar ataxia||0002073|
Low platelet count
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Reports of successful treatment of mevalonic aciduria through allogenic bone marrow transplantation have also surfaced. At this point, this therapy is investigational and potentially applicable to patients with mevalonic aciduria whose condition is resistant to therapy with anti-inflammatory drugs (e.g., inhibitors of TNF-alpha and interleukin-1 beta).
The following articles provide additional details regarding treatment of mevalonic aciduria.
Nevyjel M, Pontillo A, Calligaris L, Tommasini A, D'Osualdo A, Waterham HR, Granzotto M, Crovella S, Barbi E, Ventura A. Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics. 2007 Feb;119(2):e523-7.
Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med. 2007 Jun 28;356(26):2700-3.
Arkwright PD, Abinun M, Cant AJ. Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med. 2007 Sep 27;357(13):1350.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Is enzyme therapy (utilizing a synthetic form of mevalonate kinase) available for mevalonic aciduria? See answer