| hyperlysinaemia | Abnormal increase of the amino acid lysine in the circulating blood; associated with mental retardation, convulsions, anaemia, and asthenia; autosomal recessive inheritance. A rare form has an accompanying hyperammonaemia. Another variant is thought to be a mitochondrial defect; associated with a deficiency of alpha-aminoadipic saemialdehyde synthase. (05 Mar 2000) |
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