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