| hyperlysinemia |
1. excess of lysine in the blood. 2. an autosomal recessive aminoacidopathy due to a deficiency of one or both activities of α-aminoadipic semialdehyde synthase (q.v.), characterized by excess of lysine, and sometimes also of saccharopine, in the blood and urine. There is a possible association with mental retardation; a relationship to congenital lysine intolerance (q.v.) is unclear. See also saccharopinuria.
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