Results 81 to 90 of about 426 (123)

Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

New England Journal of Medicine, 2007
Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that severely reduces mevalonate kinase activity.
Bénédicte, Neven, Vassili, Valayannopoulos, Pierre, Quartier, Stéphane, Blanche, Anne-Marie, Prieur, Marianne, Debré, Marie-Odile, Rolland, Daniel, Rabier, Laurence, Cuisset, Marina, Cavazzana-Calvo, Pascale, de Lonlay, Alain, Fischer   +11 more
openaire   +4 more sources

Mevalonic Aciduria Cured by Bone Marrow Transplantation

New England Journal of Medicine, 2007
To the Editor: Neven et al. (June 28 issue)1 discuss the use of bone marrow transplantation in the treatment of severe mevalonic aciduria.
Peter D. Arkwright, Mario Abinun, Andrew J. Cant   +2 more
openaire   +3 more sources

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

Clinica Chimica Acta, 1985
The application of combined gas-liquid chromatography mass spectrometry in the analysis of physiological fluids from patients in whom a metabolic disorder is suspected has revealed many new inborn errors of metabolism, especially organic acidurias. Inborn errors have been identified in the conversion of cholesterol into steroid hormones and bile acids (
Berger, R., Smit, G. P., Schierbeek, H., Bijsterveld, K., le Coultre, R.   +4 more
openaire   +6 more sources

Probing cataractogenesis associated with mevalonic aciduria

Current Eye Research, 1998
Mevalonic aciduria in humans results from a genetic deficiency of mevalonate kinase and is characterized by very high plasma mevalonic acid levels, developmental malformations and cataracts. This study tested the possibility that the cataracts could result from direct toxicity of the accumulated mevalonate.Young rat lenses were cultured for up to 4 ...
R J, Cenedella, P S, Sexton
openaire   +4 more sources

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Molecular Genetics and Metabolism, 2012
Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis.
Chitra, Prasad, Marina I, Salvadori, C A, Rupar   +2 more
openaire   +4 more sources

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

Pediatrics, 1993
Objective. Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the authors assembled their experience with 11 patients ...
Georg F. Hoffmann, Christiane Charpentier, Ertan Mayatepek, Josette Mancini, Michael Leichsenring, K. Michael Gibson, Priscille Divry, Martin Hrebicek, Willy Lehnert, Klaus Sartor, Friedrich K. Trefz, Dietz Rating, Hans J. Bremer, William L. Nyhan   +13 more
exaly   +5 more sources

Coenzyme Q10 in phenylketonuria and mevalonic aciduria

Mitochondrion, 2007
Mevalonic aciduria (MVA) and phenylketonuria (PKU) are inborn errors of metabolism caused by deficiencies in the enzymes mevalonate kinase and phenylalanine 4-hydroxylase, respectively. Despite numerous studies the factors responsible for the pathogenicity of these disorders remain to be fully characterised.
openaire   +4 more sources

Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis

New England Journal of Medicine, 1986
A two-year-old boy presented with severe failure to thrive, developmental delay, anemia, hepatosplenomegaly, central cataracts, and dysmorphic features. Quantitative analyses of urinary organic acids revealed massive excretion of mevalonic acid, a metabolic precursor of cholesterol and nonsterol isoprenes: 46,000 to 56,200 mmol per mole of creatinine ...
G, Hoffmann, K M, Gibson, I K, Brandt, P I, Bader, R S, Wappner, L, Sweetman   +5 more
openaire   +4 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   +4 more sources

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

European Journal of Pediatrics, 1988
Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father
GIBSON, KM, HOFFMANN, G, NYHAN, WL, SWEETMAN, L, BERGER, R, LECOULTRE, R, SMIT, GPA   +6 more
openaire   +5 more sources