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


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