Article
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
American journal of medical genetics. Part A - 1 Mar 2005
Caldeira Araújo H, Smit W, Verhoeven N M, Salomons G S, Silva S, Vasconcelos R, Tomás H, Tavares de Almeida I, Jakobs C, Duran M
Abstract excerpt
Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to the present study. A total of 180 institutionalized patients with a severe mental handicap were investigated for urine and plasma uric acid and creatinine....
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