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Pathway Description
Saccharopinuria/Hyperlysinemia II
Homo sapiens
Disease Pathway
Saccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency) is caused by a partial deficiency of aminoadipic semialdehyde synthase (AASS) enzyme and causes an increase in saccharopine in the urine. Saccharopinuria is another form of hyperlysinemia. AASS has lysine ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity. AASS acts in the first 2 steps in lysine degradation. A defect in this enzyme results in accumulation of citrulline, lysine and saccharopin in the plasma; lysine in the spinal fluid; and citrulline, lysine and saccharopine in the urine. Symptoms include growth and mental retardation.
References
Saccharopinuria/Hyperlysinemia II References
Calvert JE, Harris JP, Phillipson OT: Tilt aftereffect reveals early visual processing deficits in Parkinson's disease and in chronic schizophrenic patients on depot neuroleptic. Psychopathology. 1991;24(6):375-80. doi: 10.1159/000284741.
Pubmed: 1685795
Higashino K: [Saccharopinuria (a variant form of familial hyperlysinemia)]. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):191-4.
Pubmed: 9590025
Carson NA, Scally BG, Neill DW, Carre LJ: Saccharopinuria: a new inborn error of lysine metabolism. Nature. 1968 May 18;218(5142):679.
Pubmed: 5690339
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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