| 释义 |
saccharopinuria
saccharopinuria[¦sak·ə·rō·pi′nu̇r·ē·ə] (medicine) An inborn error of amino acid metabolism characterized by abnormally high levels of saccharopine in the urine. saccharopinuria
sac·cha·ro·pi·nu·ri·a (sak-ar'ō-pē-nyu'rē-ă), [MIM*268700] An elevated level of saccharopine in the urine; associated with a variant of familial hyperlysinuria.saccharopinuria An 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 |