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Medical condition From Wikipedia, the free encyclopedia
Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency,[2] is a variant form of hyperlysinemia.[3] It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase, which plays a secondary role in the lysine metabolic pathway. Inheritance is thought to be autosomal recessive, but this cannot be established as individuals affected by saccharopinuria typically have only a 40% reduction in functional enzyme.[2]
This article needs additional citations for verification. (August 2020) |
Saccharopinuria | |
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Other names | Hyperlysinemia type II[1] |
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Saccharopine |
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