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| Saccharopinuria | |
| Classification and external resources | |
 Saccharopine |
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| ICD-9 | 270.7 |
|---|---|
| OMIM | 268700 |
| eMedicine | / |
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.
See also
External links
- Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases
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