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A metabolic disorder characterized by mental retardation, convulsions, anemia, and asthenia; associated with an abnormal increase of the amino acid lysine in the circulating blood due to a deficiency of lysine-ketoglutarate reductase. One variant [MIM*268700] is associated with a deficiency of α-aminoadipic semialdehyde synthase, resulting in hyperlysinemia and saccharopinemia.
a condition caused by an inborn error of metabolism and resulting in the inability to hydrolyze the essential amino acid lysine because of an enzyme defect or deficiency. It is characterized by muscle weakness and mental retardation. See also lysine intolerance.
lysinemiaA heterogeneous group of diseases with ↑ lysine or its metabolites in the blood, including hyperlysinemia, types I and II, saccharopurinuria, hydroxylysinuria, pipecolic acidemia and α-ketoadipic aciduria
Synonym(s): hyperlysinemia, lysinaemia.