Mevalonate kinase deficiency
Natural history of mevalonate kinase deficiency: a literature review
... Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less ...
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Mevalonate kinase deficiency: current perspectives
... Abstract: Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of ...
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Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum
... of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphol- ogy, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, ...
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Diagnostics and Therapeutic Insights in a Severe Case of Mevalonate Kinase Deficiency
... Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor ...of ...
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Clinical, Genetic, and Therapeutic Diversity in 2 Patients With Severe Mevalonate Kinase Deficiency
... 11. Cuisset L, Drenth JPH, Simon A, et al; In- ternational Hyper-IgD Study Group. Molecu- lar analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syn- drome. Eur J Hum Genet. 2001;9(4):260 – ...
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Long-term Outcome of a Successful Cord Blood Stem Cell Transplant in Mevalonate Kinase Deficiency
... Mevalonate kinase deficiency (MKD) is a rare autosomal recessive inborn error of metabolism with an autoin fl ammatory phenotype that may be expressed as a spectrum of disease phenotypes, from those with ...
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Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency
... cessive disease caused by mutations in the gene encoding mevalonate kinase (MVK), an enzyme involved in the bio- synthesis of cholesterol and isoprenoids. It results in a continuous spectrum of clinical ...
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Mevalonate Kinase Deficiency: A Survey of 50 Patients
... Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoin- flammatory syndrome caused by mu- tations in the gene encoding meval- onate kinase (MK), an enzyme involved in the biosynthesis ...
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Knockdown of MVK does not lead to changes in NALP3 expression or activation
... Mevalonate Kinase Deficiency and its more acute manifestation, Mevalonic ...in Mevalonate Kinase Deficiency and Mevalonic Aciduria has not yet been completely clarified, however ...
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Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey
... Results: In total, 189 patients from 38 centres were included. The main diseases were adult-onset Still ’ s disease (AOSD) (35), gout (28), systemic juvenile idiopathic arthritis (27), cryopyrin-associated periodic ...
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Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency
... It is important for clinicians to consider AHC and its associated genetic syndromes when evaluating infants with suspected adrenal insufficiency. Further studies focused on the relationship between cholestasis and ...
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Persistent eNOS activation secondary to caveolin 1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration
... sine nitration in IPAH lungs. Each lysate (150 μg) was immunoprecipitated with anti–PKG-1 and immunoblotted with anti-nitrotyrosine for detection of PKG tyrosine nitration. IPAH lungs exhibited prominent PKG-1 tyrosine ...
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Mevalonate inhibits acid sphingomyelinase activity, increases sphingomyelin levels and inhibits cell proliferation of HepG2 and Caco-2 cells
... The total RNA was extracted by TRIzol and cDNA was synthesized by a cDNA Synthesis kit for RT-PCR pur- chased from Fermentas. QPCR was performed in 20 μl volume containing 10 μl SYBR Green Supermix from Bio-Rad, cDNA ...
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Late-onset thymidine kinase 2 deficiency: a review of 18 cases
... TK2 deficiency is a severe disorder causing premature death. In recent pre-clinical studies, it has been demon- strated that treatment with pyrimidine nucleosides (dC + dT) in the H126N knock-in mouse model of TK2 ...
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Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia
... Genomic DNA from a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia was investigated using cDNA probes for the Duchenne muscular dystrophy (DMD) locus. Genomic ...
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Prevalence of Pyruvate Kinase Deficiency among the Newborns (Shiraz-Iran)
... Neonatal jaundice is the most common cause for hospital admission in the first 2 weeks of life. Hyperbilirubinemia and anemia at birth may be due to four major etiologies: immune incompatibility of ABO or Rh group, ...
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Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency
... Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic chronic hemolytic anemia, and patients normally present with mild to severe anemia, unconjugated hyperbilirubinemia, ...
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Increased Seizure Susceptibility in a Mouse with Diacylglycerol Kinase β Deficiency
... calcium-binding protein parvalbumin help to synchronize the hippocampal-network oscillations [17]. Furthermore, parvalbumin deficiency results in an increased susce- ptibility to seizure [14,18-20]. In the ...
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Metabolic compensation for profound erythrocyte adenylate kinase deficiency A hereditary enzyme defect without hemolytic anemia
... A child with hemolytic anemia was found to have severe erythrocyte adenylate kinase (AK) deficiency, but an equally enzyme-deficient sibling had no evidence of hemolysis. No residual enzyme activity was ...
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Plasma mevalonate as a measure of cholesterol synthesis in man
... after an overnight fast, or throughout the 24-h cycle, were compared with cholesterol synthesis rates that were measured by the sterol balance method: plasma MVA concentrations were dire[r] ...
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