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An elevated level of saccharopine in the urine; associated with a variant of familial hyperlysinuria.
Farlex Partner Medical Dictionary © Farlex 2012
saccharopinuriaAn AR condition characterized by abnormal lysine metabolism due to inactivity or absence of aminoadipic semialdehyde-glutamate reductase, EEG abnormalities Clinical Moderate mental retardation, spastic diplegia, short stature Lab ↑ Excretion of saccharopine, lysine, citrulline in urine
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.