Mevalonate Aciduria (MA), Mevalonate Kinase Deficiency-severe

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MA, MKD-severe

SAID group:
Mevalonate Kinase Deficiency (MKD)


Autosomal recessive.

Mostly of Dutch descent, or Northern European. [1]

Unknown, but very rare. <100 known patients worldwide. [11]

Timing of symptoms:
4-5 days. Recurrent flares with fevers every 2-3 weeks. Patients have chronic inflammation noted between flares. [11]

Age of onset:
Most present with symptoms at birth, or in early infancy. Most have facial features noted at birth. [11]

Skin cutaneous:
Diffuse maculopapular or morbilliform rash. Some with petechiae or purpura present. A few with apthous ulcers. [1], [9], [11]

Fevers with flares. Microcephaly, dolichocephaly, intellectual disability, cognitive and/or developmental delays, cerebellar ataxia, cerebellar atrophy and seizures (epilepsy) often develop over time. [11] Patients with Mevalonate Kinase Deficiencies can have flares triggered by vaccines.

Uncommon–not believed to be caused by MA. [1] [9] [11]

Uveitis, central cataracts, blue sclerae and tapetoretinal degeneration are often present, even in less severe cases. [11]

Rare. [1] [11]

Hepatomegaly, splenomegaly or hepatosplenomegaly. Cholestatic liver disease. Abdominal pain, vomiting and diarrhea with flares. [1] [9] [11] One case with hepatic fibrosis. [135]

Splenomegaly, and/or lymphadenopathy are common. [1], [11]

Joints bones muscles cartilage:
Congenital defects are often noted: microcephaly, dolichocephaly, wide irregular fontanels, low set and posteriorly rotated ears, downslanted palpebral fissures. Hypotonia, myopathy, arthralgia, arthritis and failure to thrive are common. [11]

Not noted. [11]

Not noted-unknown. [9] [11]

Abnormal labs:
Anemia, leukocytosis, thrombocytopenia. High: ESR, CRP, SAA, CK, IgD, IgA, IgE; chronically high Mevalonate aciduria. [1] [11]

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Photo credit:

Haas and Hoffmann Orphanet Journal of Rare Diseases 2006 1:13 doi:10.1186/1750-1172-1-13


Here is a helpful video overview about difficult to treat MKD by Dr Anna Simon, the leading expert on MKD/HIDS at the 2nd NIH-WRNMMC Symposium on Autoinflammatory and Immunedysregulatory Diseases that the Autoinflammatory Alliance co-sponsored and helped to organize in August 2019:

Visit our MKD page on the Autoinflammatory Alliance website.

  • Genetic Testing Our blog post and downloadable pdf of US genetic testing panels for autoinflammatory diseases.

  • Our blog with the latest news,& helpful information for thriving with an autoinflammatory diseases.

  • Healthier Ever After Our book/program to help kids with injectable medications.

    Find periodic fever syndrome panels, which test for MA and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR)

  • Our COVID-19 information for patients with autoinflammatory diseases

    NIH-WRNMMC 2nd Symposium on Autoinflammatory & Immunedysregulatory Diseases (co-sponsored by the Autoinflammatory Alliance)

  • Autoinflammatory Bootcamp lectures
    Full video archives from the symposium
  • August 22, 2019 (Day 1) August 23, 2019 (Day 2)
  • Autoinflammatory Patient & Family Program Archived Facebook LIvecast including talks by autoinflammatory disease experts.

    Updated May 2020 by Karen Durrant RN, BSN

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