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Hyperlysinemias (Hyperlysinemia) Summary

Description: A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)

Also Known As: Hyperlysinemia; Deficiency Disease, Alpha-Aminoadipic Semialdehyde; Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase; Deficiency Disease, Saccharopine Dehydrogenase; Hyperlysinemia, Familial Show All >>

Networked: 32 relevant articles (0 outcomes, 3 trials/studies) for this Disease

Key Drugs and Agents for Hyperlysinemias

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. saccharopine : 2 studies in 5 results : IBA
  2. Saccharopine Dehydrogenases (Saccharopine Dehydrogenase (NAD+, L-Glutamate Forming)) : 1 study in 6 results : IBA
  3. Oxidoreductases : 1 study in 5 results : IBA
  4. Enzymes : 1 study in 1 result : IBA
  5. acylcarnitine : 1 study in 1 result : IBA
  6. Lysine (L-Lysine) : 17 results : FDA 30
  7. Saccharopinuria : 7 results : IBA
  8. Urea (Carbamide) : 2 results : FDA 6 Generic
  9. pipecolic acid : 2 results : IBA
  10. allysine : 2 results : IBA
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Diseases Related to Hyperlysinemias

  1. Hyperammonemia
  2. Hyperlysinemias (Hyperlysinemia)
  3. Citrullinemia
  4. Propionic Acidemia
  5. Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease)
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Key Therapies for Hyperlysinemias

Efficacy Chart >>

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