Hyperlysinemia

Common Name(s)

Hyperlysinemia

Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by {21:Tondo et al., 2013}; {16:Houten et al., 2013}). The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria ({268700}), some of the first enzymatic function is retained ({6:Cox, 1985}; {8:Cox et al., 1985}).
 

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Condition Specific Organizations

Following organizations serve the condition "Hyperlysinemia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperlysinemia" returned 6 free, full-text research articles on human participants. First 3 results:

Genetic basis of hyperlysinemia.
 

Author(s): Sander M Houten, Heleen Te Brinke, Simone Denis, Jos Pn Ruiter, Alida C Knegt, Johannis Bc de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald Ja Wanders, Marinus Duran

Journal:

 

Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia.

Last Updated: 16 Apr 2013

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Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
 

Author(s): K A Sacksteder, B J Biery, J C Morrell, B K Goodman, B V Geisbrecht, R P Cox, S J Gould, M T Geraghty

Journal: Am. J. Hum. Genet.. 2000 Jun;66(6):1736-43.

 

The first two steps in the mammalian lysine-degradation pathway are catalyzed by lysine-ketoglutarate reductase and saccharopine dehydrogenase, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Defects in one or both of these activities result ...

Last Updated: 26 Jan 2001

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The prognosis of hyperlysinemia: an interim report.
 

Author(s): J Dancis, J Hutzler, M G Ampola, V E Shih, H H van Gelderen, L T Kirby, N C Woody

Journal: Am. J. Hum. Genet.. 1983 May;35(3):438-42.

 

Ten patients with familial hyperlysinemia with lysine-ketoglutarate reductase deficiency, identified through newborn screening programs or family surveys, were selected for review. Ages ranged from 2 to 24 years when last examined. A low-protein diet had been administered to two patients, ...

Last Updated: 8 Jul 1983

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Reviews from the PubMed Database

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The terms "Hyperlysinemia" returned 0 free, full-text review articles on human participants.

 
 
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