saccharopinuria

saccharopinuria
Elevated levels of saccharopine in the urine; associated with a variant of familial hyperlysinuria.

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sac·cha·ro·pin·uria (sak″ə-ro-pĭ-nuґre-ə) 1. excretion of saccharopine in the urine. 2. a variant form of hyperlysinemia; it is similarly due to mutation in the AASS gene (locus: 7q31.3), which encodes α-aminoadipic semialdehyde synthase, but while the activity of saccharopine dehydrogenase is absent, substantial lysine-ketoglutarate reductase activity is retained. It is clinically similar to hyperlysinemia but with higher urinary saccharopine and lower lysine.

Medical dictionary. 2011.

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