Results 91 to 100 of about 426 (123)

Abnormal prenatal ultrasound findings in mevalonic aciduria

Prenatal Diagnosis, 2008
V. Schwarzer, D. Haas, G. F. Hoffmann, H. Meyberg, U. Gembruch   +4 more
openaire   +3 more sources

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

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

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

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

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, L, Cuisset, J, Le Bozec, N, Guffon, C, Vianey-Saban   +4 more
openaire   +2 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

Mevalonic aciduria: Does stem cell transplant fully cure disease?

Pediatric Transplantation, 2019
AbstractMA is a rare, autosomal recessive disorder characterized by episodes of inflammation and periodic fevers. In its most severe form, it can result in facial dysmorphism, growth inhibition, ataxia, liver dysfunction, intellectual disability, and at times can be fatal.
Ann Marie Szymanski, Blachy Dávila Saldaña, Carlos R. Ferreira, Brett Loechelt, Lawrence Jung   +4 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