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saccharopinuria |
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saccharopinuria /sac·cha·ro·pin·uria/ (-pĭ-nu´re-ah) 1. excretion of saccharopine in the urine. 2. a variant form of hyperlysinemia, clinically similar but having higher urinary saccharopine and lower lysine levels. 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 How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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