Mevalonate kinase deficiency

Definition:

Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, and neurologic symptoms. The majority of patients with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA.

References:

[1]. Dorothea Haas, et al. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr 26;1:13. [Content Brief]

[2]. Irina Buhaescu, et al. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007 Jun;40(9-10):575-84. [Content Brief]

[3]. Saskia H L Mandey, et al. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006 Aug;27(8):796-802. [Content Brief]

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