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...
KeywordsGenetic Counseling Marfan Syndrome Bifunctional Protein Danlos Syndrome Urinary Amino Acid
- Cox, R. P. (2001). Errors in lysine metabolism. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic & molecular bases of inherited disease (8th ed., pp. 1965–1970). New York: McGraw-Hill (Chap. 86).Google Scholar
- Markovitz, P. J., Chuang, D. T., & Cox, R. P. (1984). Familial hyperlysinemias: Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. Journal of Biological Chemistry, 259, 11643–11646.PubMedGoogle Scholar
- Smith, T. H., Holland, M. G., & Woody, N. C. (1971). Ocular manifestations of familial hyperlysinemia. Transactions of the American Academy of Ophthalmology & Otolaryngology, 75, 355–360.Google Scholar