saccharopinuria


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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