H00206 | |
H number | H00206 |
Name | Mevalonate kinase deficiency |
Description | 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. |
Category | Inherited metabolic disorder |
Network | nt06034(H00206) Cholesterol biosynthesis |
Gene | MVK [HSA:4598] [KO:K00869] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Canakinumab [DR:D09315] |
Comment | - |
Other DBs | ICD-11: 5C52.10 ICD-10: D89.2 MeSH: D054078 OMIM: 260920 610377 |
Reference | PMID:17467679 AUTHORS Buhaescu I, Izzedine H TITLE Mevalonate pathway: a review of clinical and therapeutical implications. JOURNAL Clin Biochem 40:575-84 (2007) DOI:10.1016/j.clinbiochem.2007.03.016 PMID:16722536 AUTHORS Haas D, Hoffmann GF TITLE Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. JOURNAL Orphanet J Rare Dis 1:13 (2006) DOI:10.1186/1750-1172-1-13 PMID:16835861 AUTHORS Mandey SH, Schneiders MS, Koster J, Waterham HR TITLE Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. JOURNAL Hum Mutat 27:796-802 (2006) DOI:10.1002/humu.20361 PMID:12563048 AUTHORS Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF TITLE Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. JOURNAL Pediatrics 111:258-61 (2003) DOI:10.1542/peds.111.2.258 |