Mevalonate kinase deficiency: a survey of 50 patients

• Published in: Pediatrics (Evanston) Vol. 128; no. 1; p. e152
• Main Authors: Bader-Meunier, Brigitte, Florkin, Benoit, Sibilia, Jean, Acquaviva, Cécile, Hachulla, Eric, Grateau, Gilles, Richer, Olivier, Farber, Claire Michèle, Fischbach, Michel, Hentgen, Véronique, Jego, Patrick, Laroche, Cécile, Neven, Bénédicte, Lequerré, Thierry, Mathian, Alexis, Pellier, Isabelle, Touitou, Isabelle, Rabier, Daniel, Prieur, Anne-Marie, Cuisset, Laurence, Quartier, Pierre
• Format: Journal Article
• Language: English
• Published: United States 01.07.2011
• Subjects: Female; Humans; Infant; Infant, Newborn; Inflammation - diagnosis; Male; Metabolism, Inborn Errors - diagnosis; Phosphotransferases (Alcohol Group Acceptor) - deficiency; Retrospective Studies

The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations. Fifty patients from 38 different families were identified, including 1 asymptomati...