Familial Hyperlysinemia

Reference work entry

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

Genetics/Basic Defects

  1. 1.

    Inheritance: autosomal recessive

     
  2. 2.
    A heterogeneous group of at least three disorders
    1. a.

      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.

       
    2. b.

      Deficiency in lysine-ketoglutarate reductase (LKR) and/or saccharopine dehydrogenase (SDH) activities leads to a clinical phenotype characterized by hyperlysinemia, lysinuria, and variable saccharopinuria.

       
    3. c.

      Deficiency in saccharopine oxidoreductase activity, along with deficient LKR and SDH activities, is also observed in...

Keywords

Lysine Oxidoreductase Homocystinuria Saccharopine Hyperlysinemia 

References

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