Definition:
Saccharopinuria, also known as saccharopinemia or saccharopine dehydrogenase deficiency, pertains to an excess of saccharopine in the urine.
Saccharopinuria is a variant form of hyperlysinemia and attributed to a partial deficiency of saccharopine dehydrogenase, a type of enzyme that plays a secondary role in lysine metabolic pathway. The result is a dangerous accumulation of urinary saccharopine.
Individuals with saccharopinuria typically have short stature, elevated urinary lysine, increased urinary citrulline, excessive urinary histidine, and spastic diplegia.
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