Saccharopinuria

Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.

Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia or saccharopine dehydrogenase deficiency, is a variant form of hyperlysinemia caused by a partial deficiency of the enzyme saccharopine dehydrogenase, which plays a secondary role in the lysine metabolic pathway.

[tubepress mode='tag', tagValue='Saccharopinuria']