The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS).[1]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Cerebral cortical atrophy | Very frequent (present in 80%-99% of cases) |
| Delayed skeletal maturation | Very frequent (present in 80%-99% of cases) |
| Dolichocephaly | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Large fontanelles | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Splenomegaly | Very frequent (present in 80%-99% of cases) |
| Triangular face | Very frequent (present in 80%-99% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Blue sclerae | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Low-set, posteriorly rotated ears | Frequent (present in 30%-79% of cases) |
| Kyphoscoliosis | Occasional (present in 5%-29% of cases) |
| Aciduria | - |
| Agenesis of cerebellar vermis | - |
| Arthralgia | - |
| - | |
| Cerebellar atrophy | - |
| Cerebral atrophy | - |
| Diarrhea | - |
| Edema | - |
| Elevated hepatic transaminases | - |
| Elevated serum creatine phosphokinase | - |
| Failure to thrive | - |
| Fluctuating hepatomegaly | - |
| Fluctuating splenomegaly | - |
| Leukocytosis | - |
| Low-set ears | - |
| Lymphadenopathy | - |
| Morbilliform rash | - |
| Normocytic hypoplastic |
- |
| - | |
| Posteriorly rotated ears | - |
| Progressive cerebellar ataxia | - |
| Skin rash | - |
| - | |
| Vomiting | - |
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).[4][5]
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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Is enzyme therapy (utilizing a synthetic form of mevalonate kinase) available for mevalonic aciduria? See answer
