Results 91 to 100 of about 443 (126)

Mevalonic aciduria: Report of two cases

Journal of Inherited Metabolic Disease, 2007
SummaryMevalonic aciduria is a rare disease that is a consequence of a deficiency of mevalonate kinase, an inborn error in the biosynthesis of cholesterol. Approximately 30 cases have been reported. We present our data on two siblings with mevalonic aciduria as a contribution to the recognition of this subject.
J R, Bretón Martínez, A, Cánovas Martínez, S, Casaña Pérez, J, Escribá Alepuz, F, Giménez Vázquez   +4 more
openaire   +2 more sources

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

Journal of Inherited Metabolic Disease, 1997
Mevalonic aciduria, the result of mevalonate kinase (MKase) deficiency (McKusick 251170), is a rare abnormality of cholesterol and nonsterol isoprene biosynthesis identified in approximately 14 patients. The phenotype includes developmental delays, failure to thrive, hypotonia, ataxia, organomegaly, dysmorphia, cataracts, lymphadenopathy, myopathy and ...
K M, Gibson, G F, Hoffmann, L, Sweetman, B, Buckingham   +3 more
openaire   +2 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
K Michael Gibson, G P A Smit, Lawrence Sweetman   +2 more
exaly   +4 more sources

RETINITIS PIGMENTOSA AND PUNCTATE CATARACTS IN MEVALONIC ACIDURIA

RETINAL Cases & Brief Reports, 2010
Mevalonic aciduria, caused by deficiency of mevalonate kinase, was the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Ophthalmic features of this potentially blinding disorder include blue sclera, cataract, uveitis, optic atrophy, and, importantly, a retinitis pigmentosa-like retinopathy.
Shawn C, Wilker, Gislin, Dagnelie, Morton F, Goldberg   +2 more
openaire   +2 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   +2 more sources

Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts

Journal of Inherited Metabolic Disease, 1988
Mevalonic aciduria represents the first documented inherited disorder of the pathway for the biosynthesis of cholesterol and non-sterol isoprenes in man (Hoffmann et al., 1986). Two patients have been described (Berger et al., 1985; Hoffmann et al., 1986), whose clinical presentations were very different.
G, Hoffmann, K M, Gibson, W L, Nyhan, L, Sweetman   +3 more
openaire   +2 more sources

Coenzyme Q₁₀ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Journal of Inherited Metabolic Disease, 2009
SummaryThe content of coenzyme Q10 (CoQ10) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ10 depletion either by direct inhibition of the proximal pathway of CoQ10 synthesis (MVA) or ...
Haas, D., Niklowitz, P., Horster, F., Baumgartner, E.R., Prasad, C., Rodenburg, R.J.T., Hoffmann, G.F., Menke, T., Okun, J.G.   +8 more
openaire   +2 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 ...
K Michael Gibson, Ira K Brandt, Lawrence Sweetman   +2 more
exaly   +3 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   +2 more sources

Coenzyme Q10 is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

Journal of Inherited Metabolic Disease, 2009
The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or ...
Richard J Rodenburg, Georg Friedrich Hoffmann, J G Okun   +2 more
exaly   +1 more source