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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)

Year introduced: 2000

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Tree Number(s): C10., C16.320.565.100.544, C16.320.565.189.380, C18.452.132.100.380, C18.452.648.100.544, C18.452.648.189.380

MeSH Unique ID: D020167

Entry Terms:

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

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