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Encyclopedia > Saccharopinuria

Saccharopinuria (an excess of saccharopine in the urine) is a variant form of hyperlysinemia caused by a partial enzyme deficiency. Hyperlysinemia is a group of hereditary disorders characterized by an abnormal increase of lysine in the blood and associated with mental retardation, convulsions, and anemia. ... Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ...


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