Definition: 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 a-aminoadipic semialdehyde synthase, resulting in hyperlysinemia and saccharopinemia.
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