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ENHyperlysinemia, Type I (HYPLYS1)
Alias:
Hyperlysinemia
Lysine Alpha-Ketoglutarate Reductase Deficiency
Hyperlysinemia Type I
Lysine Intolerance
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Alpha-Aminoadipic Semialdehyde Synthase Deficiency
Alpha-Aminoadipic Semialdehyde Deficiency Disease
Lysine:alpha-Ketoglutarate Reductase Deficiency
L-Lysine:nad-Oxido-Reductase Deficiency
Saccharopinuria
Hyperlysinemias
Saccharopine Dehydrogenase Deficiency Disease
Saccharopine Dehydrogenase Deficiency
Familial Hyperlysinemia
Hyperlysinemia, 1
Hyplys1
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Hyperlysinemia, Type I, also known as hyperlysinemia, is related to 2,4-dienoyl-coa reductase deficiency and argininemia, and has symptoms including seizures An important gene associated with Hyperlysinemia, Type I is AASS (Aminoadipate-Semialdehyde Synthase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include cortex and kidney, and related phenotypes are intellectual disability and seizure
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