Article
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Human mutation - 1 Apr 2014
Mercimek-Mahmutoglu Saadet, Ndika Joseph, Kanhai Warsha, de Villemeur Thierry Billette, Cheillan David, Christensen Ernst, Dorison Nathalie, Hannig Vickie, Hendriks Yvonne, Hofstede Floris C, Lion-Francois Laurence, Lund Allan M, Mundy Helen, Pitelet Gaele, Raspall-Chaure Miquel, Scott-Schwoerer Jessica A, Szakszon Katalin, Valayannopoulos Vassili, Williams Monique, Salomons Gajja S
Abstract excerpt
Guanidinoacetate methyltransferase deficiency (GAMT-D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoacetate levels in body fluids are the biomarkers of GAMT-D. In 74 patients, 50 different mutations in the GAMT gene have been identified with missense variants being the most common. Clinical and...
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