Saccharopinuria
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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]
Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
Epidemiology[edit | edit source]
The prevalence is unknown.
Cause[edit | edit source]
It is caused by a deficiency in the bifunctional enzyme alpha-aminoadipate semialdehyde synthase, encoded by the AASS gene (located at 7q31.3). This enzyme has both lysine-ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity, and catalyses the first two steps of lysine degradation. In saccharopinuria, deficiency of the LKR activity is only partial.
Inheritance[edit | edit source]
Saccharopinuria is an autosomal recessive disorder.
Signs and symptoms[edit | edit source]
The few patients with saccharopinuria have been investigated largely because of neurological problems including spastic diplegia but the relationship between the saccharopinuria and these is unclear.
Alternate names[edit | edit source]
Saccharopine dehydrogenase deficiency
Diagnosis[edit | edit source]
Treatment[edit | edit source]
See also[edit | edit source]
References[edit | edit source]
- ↑ 1.0 1.1 Online Mendelian Inheritance in Man (OMIM) 268700
- ↑
External links[edit | edit source]
| Classification | |
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| External resources |
- Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
NIH genetic and rare disease info[edit source]
Saccharopinuria is a rare disease.
| Saccharopinuria Resources | ||
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