Mevalonate kinase
Mevalonate kinase deficiency: current perspectives
... residual mevalonate kinase activ- ...the mevalonate pathway leads to interruption in cholesterol and nonsterol isoprenoid biosynthesis and also hyperproduction of IL-1 b , leading to its ...
10
Clinical, Genetic, and Therapeutic Diversity in 2 Patients With Severe Mevalonate Kinase Deficiency
... Mevalonic aciduria (MA) represents the severest form of mevalonate kinase de fi ciency due to recessively inherited, loss-of-function MVK mutations. MA is an early-onset disorder characterized by a marked ...
7
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
... of mevalonate kinase (MVK), the first committed enzyme of cholesterol ...of mevalonate kinase or by demonstration of disease-causing ...
5
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)
... titre was 1/320 and rheumatoid factors were not detected. HIV, viral hepatitis (HBV, HCV) and Lyme disease serologies were negative. In contrast, serum protein immuno fi xation electrophoresis revealed abnor- mal levels ...
6
Long-term Outcome of a Successful Cord Blood Stem Cell Transplant in Mevalonate Kinase Deficiency
... Mevalonate kinase deficiency (MKD) is a rare autosomal recessive inborn error of metabolism with an autoin fl ammatory phenotype that may be expressed as a spectrum of disease phenotypes, from those with ...
7
Original Article Detection of a novel missense mutation in the mevalonate kinase genein one Chinese family with DSAP
... Abstract: Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis and a severe chronic autosomal dominant cutaneous disorder with high genetic heterogeneity. Recently, the ...
5
Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency
... cessive disease caused by mutations in the gene encoding mevalonate kinase (MVK), an enzyme involved in the bio- synthesis of cholesterol and isoprenoids. It results in a continuous spectrum of clinical ...
7
Diagnostics and Therapeutic Insights in a Severe Case of Mevalonate Kinase Deficiency
... Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor ...of ...
7
Structure, substrate recognition and reactivity of Leishmania major mevalonate kinase
... Putative mevalonate kinase encoding genes from Leishmania major (LmMK) and Trypanosoma brucei (TbMK) have been cloned, over-expressed in and proteins isolated from procyclic-form ...of mevalonate. ...
16
Natural history of mevalonate kinase deficiency: a literature review
... There is a residual mevalonate kinase activity varying from 1.8 % to 28 % in HIDS patients, but little to no re- sidual activity in MVA patients [1, 27]. Conversely, there are mildly to moderately elevated ...
10
Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum
... CK (up to 4300 U/L). Weight developed along the 10th percentile for the first years; length fell from the 25th to the 3rd percentile within the first year. After the age of 10 months, psychomotor retardation became ...
6
Mevalonate Kinase Deficiency: A Survey of 50 Patients
... Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoin- flammatory syndrome caused by mu- tations in the gene encoding meval- onate kinase (MK), an enzyme involved in the biosynthesis ...
10
Knockdown of MVK does not lead to changes in NALP3 expression or activation
... Mevalonate Kinase Deficiency and its more acute manifestation, Mevalonic ...in Mevalonate Kinase Deficiency and Mevalonic Aciduria has not yet been completely clarified, however different ...
5
Combinatorial engineering of hybrid mevalonate pathways in Escherichia coli for protoilludene production
... pneumoniae mevalonate kinase (SnMvaK1) is subject to allosteric regulation by diphosphomevalonate, whereas ...aureus mevalonate kinase (SaMvaK1) without the allosteric regulation is ...
8
Enzymatic process optimization for the in vitro production of isoprene from mevalonate
... enzymes mevalonate can be converted to dimethylallyl pyrophos- phate (DMAPP) by primary mevalonate kinase (MVK, EC ...phomevalonate kinase, PMK, EC ...
8
Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria
... The site of the defect in patients with mevalonic aciduria is mevalonate kinase (solid square), following 3-hydroxy- 3-methylglutaryl-coenzyme A (HMG-CoA) reductase, the rate- limiting e[r] ...
9
Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey
... Results: In total, 189 patients from 38 centres were included. The main diseases were adult-onset Still ’ s disease (AOSD) (35), gout (28), systemic juvenile idiopathic arthritis (27), cryopyrin-associated periodic ...
11
Autoinflammatory diseases in childhood
... with mevalonate kinase defi- ciency (MKD) was originally identified in 1984 in six patients of Dutch ancestry with a long history of recur- rent attacks of fever of unknown cause and a high serum Ig D level ...
12
Sterol synthesis in the human arterial intima
... Intimal sterol synthesis was examined in isolated human arterial segments obtained at surgery or at postmortem examination. The tissues were incubated with acetate-1- 14 C and mevalonate-2- 14 C and the ...
10
Mevalonate availability affects human and rat resistance vessel function
... cellular mevalonate contributes to vascular tone and systemic blood pressure ...exogenous mevalonate (M) or lovastatin, a 3-hydroxy-3-methyl-glutaryl CoA (HMG-CoA) reductase inhibitor (L), we characterized ...
7