Mevalonate Kinase Deficiency: Diagnostic and Management Challenges

2021 ◽  
Author(s):  
Puneet Kumar Choudhary ◽  
Vivek Parihar ◽  
Jagatshreya Satapathy ◽  
Narendra Kumar Bagri
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

2006 ◽  
Vol 27 (8) ◽  
pp. 796-802 ◽  
Author(s):  
Saskia H.L. Mandey ◽  
Marit S. Schneiders ◽  
Janet Koster ◽  
Hans R. Waterham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mutational Spectrum

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

1997 ◽  
Vol 20 (3) ◽  
pp. 391-394 ◽  
Author(s):  
K. M. Gibson ◽  
G. F. Hoffmann ◽  
L. Sweetman ◽  
B. Buckingham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Dizygotic Twin ◽  
Mevalonic Aciduria

Mevalonate Kinase Deficiency: Disclosing the Role of Mevalonate Pathway Modulation in Inflammation

2012 ◽  
Vol 18 (35) ◽  
pp. 5746-5752 ◽  
Author(s):  
Annalisa Marcuzzi ◽  
Sergio Crovella ◽  
Lorenzo Monasta ◽  
Liza Vecchi Brumatti ◽  
Marco Gattorno ◽  
...  
Keyword(s):  
Mevalonate Pathway ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

scholarly journals A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Tiziana Coppola ◽  
Bradford Becken ◽  
Heather Van Mater ◽  
Marie Theresa McDonald ◽  
Gabriela Maradiaga Panayotti
Keyword(s):  
Case Report ◽  
Lower Extremity ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Lower Extremity Weakness

scholarly journals Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

2016 ◽  
Vol 94 (10) ◽  
pp. 994-999 ◽  
Author(s):  
Julie Jurczyluk ◽  
Marcia A Munoz ◽  
Oliver P Skinner ◽  
Ryan C Chai ◽  
Naveid Ali ◽  
...  
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Rab Gtpases ◽  
Mevalonate Kinase

scholarly journals Mevalonate kinase deficiency: current perspectives

2016 ◽  
Vol Volume 9 ◽  
pp. 101-110 ◽  
Author(s):  
Grant Schulert ◽  
Leslie Favier
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

scholarly journals Tocilizumab for the Treatment of Mevalonate Kinase Deficiency

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Nadia K. Rafiq ◽  
Helen Lachmann ◽  
Frodi Joensen ◽  
Troels Herlin ◽  
Paul A. Brogan
Keyword(s):  
Autoinflammatory Disease ◽  
Energy Levels ◽  
Poor Quality ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Recessive Mutations ◽  
Limited Experience ◽  
Life Threatening ◽  
Important Addition

Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life-threatening sequelae if inadequately treated. We report the case of a 12-year-old girl with MKD and severe autoinflammation that was resistant to IL-1 and TNF-αblockade. In view of this, she commenced intravenous tocilizumab (8 mg/kg every 2 weeks), a humanised monoclonal antibody targeting the IL-6 receptor (IL-6R) that binds to membrane and soluble IL-6R, inhibiting IL-6-mediated signaling. She reported immediate cessation of fever and marked improvement in her energy levels following the first infusion; after the fifth dose, she was in complete clinical and serological remission, now sustained for 24 months. This is one of the first reported cases of a child with MKD treated successfully with tocilizumab and adds to the very limited experience of this treatment for MKD. IL-6 blockade could therefore be an important addition to the armamentarium for the treatment of this rare monogenic autoinflammatory disease.

Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation

2009 ◽  
Vol 20 (3) ◽  
pp. 101-107 ◽  
Author(s):  
Sylvain Normand ◽  
Benoit Massonnet ◽  
Adriana Delwail ◽  
Laure Favot ◽  
Laurence Cuisset ◽  
...  
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Caspase 1 ◽  
Specific Increase
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