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

/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