Saccharopinuria

Common Name(s)

Saccharopinuria

Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I ({238700}) both result from deficiency of the bifunctional enzyme AASS ({605113}) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by {11:Tondo et al., 2013}). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase ({3:Cox, 1985}; {5:Cox et al., 1985}).
 

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Condition Specific Organizations

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

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Scientific Literature

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The terms "Saccharopinuria" returned 1 free, full-text research articles on human participants. First 3 results:

Saccharopinuria.
 

Author(s): O Simell, J K Visakorpi, M Donner

Journal: Arch. Dis. Child.. 1972 Feb;47(251):52-5.

 

Last Updated: 22 Jun 1972

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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