Hyperlysinemias

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; Familial Hyperlysinemia; Hyperlysinemia, Familial; Hyperlysinemia, Periodic; Hyperlysinuria With Hyperammonemia; L-Lysine:NAD-Oxido-Reductase Deficiency; Lysine:Alpha-Ketoglutarate Reductase Deficiency; Alpha Aminoadipic Semialdehyde Deficiency Disease; Deficiencies, L-Lysine:NAD-Oxido-Reductase; Deficiencies, Lysine:Alpha-Ketoglutarate Reductase; Deficiency Disease, Alpha Aminoadipic Semialdehyde; Deficiency Disease, Lysine Alpha Ketoglutarate Reductase; Deficiency, L-Lysine:NAD-Oxido-Reductase; Deficiency, Lysine:Alpha-Ketoglutarate Reductase; Familial Hyperlysinemias; Hyperammonemia, Hyperlysinuria With; Hyperammonemias, Hyperlysinuria With; Hyperlysinemias, Familial; Hyperlysinemias, Periodic; Hyperlysinuria With Hyperammonemias; L Lysine:NAD Oxido Reductase Deficiency; L-Lysine:NAD-Oxido-Reductase Deficiencies; Lysine Alpha Ketoglutarate Reductase Deficiency Disease; Lysine:Alpha Ketoglutarate Reductase Deficiency; Lysine:Alpha-Ketoglutarate Reductase Deficiencies; Periodic Hyperlysinemia; Periodic Hyperlysinemias; Reductase Deficiencies, Lysine:Alpha-Ketoglutarate; Reductase Deficiency, Lysine:Alpha-Ketoglutarate; With Hyperammonemia, Hyperlysinuria; With Hyperammonemias, Hyperlysinuria; Alpha-Aminoadipic Semialdehyde Deficiency Disease; Lysine Alpha-Ketoglutarate Reductase Deficiency Disease; Saccharopine Dehydrogenase Deficiency Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Hyperlysinemias: 37
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Hyperlysinemias: 37
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperlysinemias: 37
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Hyperlysinemias: 37
    - Inborn Errors Amino Acid Metabolism: 1
      - Hyperlysinemias: 37
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Hyperlysinemias: 37

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Disease

Drug/Important Bio-Agent (IBA)