Results 101 to 110 of about 443 (126)

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

Journal of Inherited Metabolic Disease, 2005
SummaryPrenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagnosed.
M O Rolland, C Vianey-Saban, N Guffon
exaly   +3 more sources

Near normal levels of isoprenoid lipids in severe mevalonic aciduria

Biochemical and Biophysical Research Communications, 1988
The levels of cholesterol and dolichyl phosphate in the liver of an abortus with severe mevalonic aciduria were found to be approximately 60% of the mean of 5 age matched controls, while the level of squalene was within the normal range. Thus, despite a level of mevalonate kinase reported to be less than 1% of normal (Hoffmann, H. et al. (1986) N. Engl.
R K, Keller, W S, Simonet
openaire   +2 more sources

Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathy

Pediatric Neurology, 1993
Mevalonic aciduria, due to mevalonate kinase deficiency, is the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Very few patients with this disorder have been reported. Three siblings born from consanguineous parents are reported.
J, Mancini, N, Philip, B, Chabrol, P, Divry, M O, Rolland, N, Pinsard   +5 more
openaire   +2 more sources

A Patient with Mevalonic Aciduria Presenting with Hepatosplenomegaly, Congenital Anaemia, Thrombocytopenia and Leukocytosis

Journal of Inherited Metabolic Disease, 1988
Mevalonic aciduria is an inborn error in cholesterol biosynthesis, due to a deficiency of mevalonate kinase (EC 2.7.1.36), which has recently been discovered. So far two patients have been reported (Berger et al., 1985; Hoffmann et al., 1986).
L Dorland, D Ketting, L Bruinvis
exaly   +3 more sources

The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria

Medical Hypotheses, 2008
Mevalonic aciduria belongs to a group of rare inherited metabolic disorders related to cholesterol biosynthesis. The pathogenesis of mevalonic aciduria is not clear, although the cause is known - a genetic defect leading to a deficiency in mevalonate kinase activity.
Peter Celec, Michal Behuliak
exaly   +3 more sources

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

Journal of Inherited Metabolic Disease, 1987
Mevalonic aciduria was found in a 19-month-old boy with severe failure to thrive and developmental delay (Sweetman et al., 1985; Hoffmann et al., 1986). Cardinal manifestations included recurrent anaemia, mild hepatosplenomegaly, bilateral central cataracts and dysmorphic features. Serum cholesterol was low (1.82.1mmol/L).
K. M. Gibson, G. Hoffmann, W. L. Nyhan, L. Sweetman, I. K. Brandt, R. S. Wappner, P. I. Bader   +6 more
openaire   +1 more source

An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria

Acta Paediatrica, 2002
This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo. Conclusion: Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis.
L, Nimubona, D, Laloum, M O, Rolland, M H, Read, B, Guillois, J F, Duhamel   +5 more
openaire   +2 more sources

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

Journal of Inherited Metabolic Disease, 2000
Mevalonic aciduria is an inborn error of cholesterol and nonsterol isoprene biosynthesis due to mevalonate kinase deficiency (MKD; McKusick 251170). Urinary excretion of mevalonate is massively increased. Clinical manifestations include psychomotor retardation, hypotonia, dysmorphic features, failure to thrive, cataracts and hepatosplenomegaly.
Poll-The, B. T., Frenkel, J., Houten, S. M., Kuis, W., Duran, M., de Koning, T. J., Dorland, L., de Barse, M. M., Romeijn, G. J., Wanders, R. J., Waterham, H. R.   +10 more
openaire   +4 more sources

Mevalonic Aciduria

2023
Amirhossein Habibzadeh, Shaghayegh Khanmohammadi   +1 more
openaire   +1 more source

Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity

Hepatology, 2021
Melissa Chiu, Justin Garabon, Lina Chen, Natalya Karp, Akshay Kapoor, Jessica P. Woolfson   +5 more
openaire   +2 more sources