Familial hyperlysinemia is an inborn error of metabolism caused by a defect in the bifunctional protein α-aminoadipic semialdehyde synthase.
Synonyms and Related Disorders
Alpha-aminoadipic semialdehyde synthase deficiency; L-lysine NAD-oxido-reductase deficiency; Lysine:alpha-ketoglutarate reductase deficiency
Inheritance: autosomal recessive
A heterogeneous group of at least three disorders
Caused by mutations in the gene (mapped to 7q31.3) encoding α-aminoadipic semialdehyde synthase (AASS), the bifunctional protein that contains both lysine-ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity.
Deficiency in lysine-ketoglutarate reductase (LKR) and/or saccharopine dehydrogenase (SDH) activities leads to a clinical phenotype characterized by hyperlysinemia, lysinuria, and variable saccharopinuria.
Deficiency in saccharopine oxidoreductase activity, along with deficient LKR and SDH activities, is also observed in...
KeywordsLysine Oxidoreductase Homocystinuria Saccharopine Hyperlysinemia
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