Results 1 to 10 of about 519 (143)

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome [PDF]

Orphanet Journal of Rare Diseases, 2006
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.
Hoffmann Georg F, Haas Dorothea
doaj   +6 more sources

Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation [PDF]

Frontiers in Immunology, 2021
Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway.
Hyery Kim, Beom Hee Lee, Gu-Hwan Kim
exaly   +4 more sources

Novel genotype of mevalonic aciduria with fatalities in premature siblings. [PDF]

Arch Dis Child Fetal Neonatal Ed, 2004
Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.
Raupp P, Varady E, Duran M, Wanders RJ, Waterham HR, Houten SM.   +5 more
europepmc   +9 more sources

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated [PDF]

Frontiers in Immunology
PurposeThe aim of this study was to present a case of early-onset mevalonic aciduria (MA) in a neonate and summarize the relevant phenotypic and genotypic spectra of MA.Methods and resultsWe describe a neonate who presented with elevated inflammatory ...
Shanshan Xue, Shanshan Xue, Wujuan Shi, Wujuan Shi, Xiaobo He, Xiaobo He, Lihong Hao, Lihong Hao   +7 more
doaj   +2 more sources

Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review [PDF]

Genes and Diseases, 2022
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (MVK).
Isabelle Touitou
doaj   +2 more sources

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency [PDF]

Pediatric Rheumatology Online Journal, 2022
Objectives Mevalonate kinase deficiency (MKD) is a rare autoinflammatory syndrome. Several reports have described allogeneic hematopoietic stem cell transplantation in severely affected patients, sometimes with promising results.
Jerold Jeyaratnam, Maura Faraci, Andrew R. Gennery, Katarzyna Drabko, Mattia Algeri, Akira Morimoto, Tiarlan Sirait, Arjan C. Lankester, Michael Albert, Benedicte Neven, Joost Frenkel, on behalf of the EBMT Inborn Errors Working Party   +11 more
doaj   +2 more sources

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency [PDF]

Orphanet Journal of Rare Diseases
Background Mevalonate kinase deficiency (MKD) is a rare genetic disorder, resulting in the lack of the mevalonate kinase enzyme (MVK), which is involved in the biosynthesis of cholesterol, non-sterol isoprenoids, and coenzyme Q10 (CoQ10). The more severe
Alessia Pugliese, Christina von Landenberg, Romina Gallizzi, Alba Migliorato, Sabata Pierno, Carmelo Rodolico, Cornelia Kornblum, Ignazio Giuseppe Arena, Wolfram S. Kunz, Jens Reimann, Antonio Toscano, Olimpia Musumeci   +11 more
doaj   +2 more sources

Intrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency – a case report [PDF]

Maternal Health, Neonatology and Perinatology
Background Mevalonate kinase deficiency is an inherited autoinflammatory disorder that can present with a wide clinical spectrum, ranging from mild forms with recurrent episodes of fever, lymphadenopathy, splenomegaly and skin rash to the much rarer ...
Henrike Hoermann, Julia Franzel, Juliane Tautz, Prasad T. Oommen, Elke Lainka, Ertan Mayatepek, Thomas Hoehn   +6 more
doaj   +2 more sources

Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort [PDF]

Pediatric Rheumatology Online Journal
Background Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease, and mevalonic aciduria (MA) is a severe phenotype of MKD. The present study reports the characteristics of MKD and four novel mutations in the mevalonate kinase (MVK) gene ...
Chenchen Guan, Wenjie Wang, Qinhua Zhou, Jinqiao Sun, Lipin Liu, Luyao Liu, Bijun Sun, Jia Hou, Xiaochuan Wang   +8 more
doaj   +2 more sources

Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report [PDF]

Journal of Medical Case Reports
Background Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory syndrome caused by mevalonate kinase enzyme deficiency. It is characterized by recurrent febrile attacks beginning in the first year of life.
Elisamia Ngowi, Rukhsar Osman, Hajaj Mohamed Salum, Maria Bulimba, Evance Godfrey, Aika Abia Shoo, Nahida Z. Walli, Mohamedraza Ebrahim, Mariam Noorani, Peter M. Swai, Francis F. Furia   +10 more
doaj   +2 more sources