Article
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Molecular genetics and metabolism - 1 Jan 2009
Dhar S U, Scaglia F, Li F-Y, Smith L, Barshop B A, Eng C M, Haas R H, Hunter J V, Lotze T, Maranda B, Willis M, Abdenur J E, Chen E, O'Brien W, Wong L-J C
Abstract excerpt
Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by excessive amounts of guanidinoacetate in body fluids, deficiency of creatine in the brain, and presence of mutations in the GAMT gene. We present here 8 new patients with GAMT deficiency along with their clinical, biochemical and molecular data. The age at diagnosis of our patients ranges from 0 to 14...
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