Saccharopinuria
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| 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
The prevalence is unknown.
Cause
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
Saccharopinuria is an autosomal recessive disorder.
Signs and symptoms
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
Saccharopine dehydrogenase deficiency
Diagnosis
Treatment
See also
References
External links
- Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases
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This article is a genetic disorder stub. You can help WikiMD by expanding it!
NIH genetic and rare disease info
Saccharopinuria is a rare disease.
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Rare diseases - Saccharopinuria
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