Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis

1987 ◽  
Vol 10 (S2) ◽  
pp. 282-285 ◽  
Author(s):  
K. M. Gibson ◽  
G. Hoffmann ◽  
W. L. Nyhan ◽  
L. Sweetman ◽  
I. K. Brandt ◽  
...  
Keyword(s):  
Inborn Error ◽  
Cholesterol Biosynthesis ◽  
Family Studies ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

1997 ◽  
Vol 20 (3) ◽  
pp. 391-394 ◽  
Author(s):  
K. M. Gibson ◽  
G. F. Hoffmann ◽  
L. Sweetman ◽  
B. Buckingham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Dizygotic Twin ◽  
Mevalonic Aciduria

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

1988 ◽  
Vol 148 (3) ◽  
pp. 250-252 ◽  
Author(s):  
K. M. Gibson ◽  
G. Hoffmann ◽  
W. L. Nyhan ◽  
L. Sweetman ◽  
R. Berger ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency

1993 ◽  
Vol 217 (2) ◽  
pp. 217-220 ◽  
Author(s):  
K.Michael Gibson ◽  
Frans Stellaard ◽  
Georg F. Hoffmann ◽  
Dietz Rating ◽  
Martin Hrebicek ◽  
...  
Keyword(s):  
Bile Acid ◽  
Acid Metabolism ◽  
Bile Acid Metabolism ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

scholarly journals Temperature and Drug Treatments in Mevalonate Kinase Deficiency: AnEx VivoStudy

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Paola Maura Tricarico ◽  
Giulio Kleiner ◽  
Elisa Piscianz ◽  
Valentina Zanin ◽  
Lorenzo Monasta ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Mevalonate Pathway ◽  
Cholesterol Biosynthesis ◽  
Effect Of Temperature ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Febrile Condition ◽  
Inflammatory Phenotype ◽  
Drug Treatments

Mevalonate Kinase Deficiency (MKD) is a rare autosomal recessive inborn disorder of cholesterol biosynthesis caused by mutations in the mevalonate kinase (MK) gene, leading to MK enzyme decreased activity. The consequent shortage of mevalonate-derived isoprenoid compounds results in an inflammatory phenotype, caused by the activation of the NALP3 inflammasome that determines an increased caspase-1 activation and IL-1βrelease. In MKD, febrile temperature can further decrease the residual MK activity, leading to mevalonate pathway modulation and to possible disease worsening. We previously demonstrated that the administration of exogenous isoprenoids such as geraniol or the modulation of the enzymatic pathway with drugs, such as Tipifarnib, partially rescues the inflammatory phenotype associated with the defective mevalonic pathway. However, it has not been investigated yet how temperature can affect the success of these treatments. Thus, we investigated the effect of temperature on primary human monocytes from MKD patients. Furthermore the ability of geraniol and Tipifarnib to reduce the abnormal inflammatory response, already described at physiological temperature in MKD, was studied in a febrile condition. We evidenced the role of temperature in the modulation of the inflammatory events and suggested strongly considering this variable in future researches aimed at finding a treatment for MKD.

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

1985 ◽  
Vol 152 (1-2) ◽  
pp. 219-222 ◽  
Author(s):  
R. Berger ◽  
G.P.A. Smit ◽  
H. Schierbeek ◽  
K. Bijsterveld ◽  
R.le Coultre
Keyword(s):  
Inborn Error ◽  
Cholesterol Biosynthesis ◽  
Mevalonic Aciduria
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