Mevalonate kinase deficiency: a survey of 50 patients.

  title={Mevalonate kinase deficiency: a survey of 50 patients.},
  author={Brigitte Bader-Meunier and Beno{\^i}t Florkin and Jean Sibilia and C{\'e}cile Acquaviva and Eric Hachulla and Gilles Grateau and Olivier Richer and Claire Mich{\`e}le Farber and Michel Fischbach and V{\'e}ronique Hentgen and Patrick J{\'e}go and C{\'e}cile Laroche and B{\'e}n{\'e}dicte Neven and Thierry Lequerr{\'e} and Alexis Mathian and Isabelle Pellier and Isabelle Touitou and Daniel Rabier and A Prieur and Laurence Cuisset and Pierre Quartier},
  volume={128 1},
OBJECTIVE The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). METHODS This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations. RESULTS Fifty patients from 38 different families were identified, including 1 asymptomatic patient. Symptoms began during the first 6 months of life in 30 patients (60%) and before the age of 5 years in 46 patients (92%). Symptoms consisted of febrile… CONTINUE READING


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