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Pathway Description
Hyperlysinemia II or Saccharopinuria
Homo sapiens
Disease Pathway
Saccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency, hyperlysinemia type II) is an autosomal recessive disease characterized by high concentrations of saccharopine in the plasma and urine.It is caused by the deficiency of the enzyme alpha-aminoadipic semialdehyde synthase (AASS). AASS contains a lysine ketoglutarate reductase (LKR) domain which catalyzes the conversion of lysine to saccharopine, and a saccharapine dehydrogenase (SDH) domain which catalyzes the conversion of saccharopine to alpha-aminoadipic semialdehyde. Hyperlysinemia type II is categorized by the loss in SDH activity but the preservation of significant amounts of LKR activity. This leads to the accumulation of saccharopine. The loss of both enyzmatic functions is categorized as hyperlysinemia type I.
References
Hyperlysinemia II or Saccharopinuria References
[Metagen: HYPERLYSINEMIA II OR SACCHAROPINURIA](http://metagene.de/program/d.prg?id_d=424)
[OMIM: 268700](http://omim.org/entry/268700})
[Saccharopinuria](http://en.wikipedia.org/wiki/Saccharopinuria)
Higashino K: [Saccharopinuria (a variant form of familial hyperlysinemia)]. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):191-4.
Pubmed: 9590025
Lysine Degradation References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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