Saccharopinuria
| Saccharopinuria | |
|---|---|
| 125px | |
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-9-CM | 270.7 |
| OMIM | 268700 |
| Patient UK | Saccharopinuria |
Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency,[1] is a variant form of hyperlysinemia.[2] 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.[1]
See also
References
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<references />, or <references group="..." />External links
- Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases
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This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 268700
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
