Saccharopinuria
| Saccharopinuria | |
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| Saccharopine.svg | |
| Saccharopine | |
| Synonyms | Hyperlysinemia type II[1]
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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]
Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
Epidemiology[edit]
The prevalence is unknown.
Cause[edit]
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]
Saccharopinuria is an autosomal recessive disorder.
Signs and symptoms[edit]
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]
Saccharopine dehydrogenase deficiency
Diagnosis[edit]
Treatment[edit]
See also[edit]
References[edit]
External links[edit]
- Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases
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NIH genetic and rare disease info[edit]
Saccharopinuria is a rare disease.
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Rare diseases - Saccharopinuria
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