Svensk definition
En grupp ärftliga ämnesomsättningsrubbningar som ger förhöjda halter av lysin i blodet. Brist på enzymerna alfaaminoadipin-semialdehyddehydrogenas och sackaropindehydrogenas sätts i samband med hyperlysinemi. Till de kliniska kännetecknen hör mental funktionsnedsättning, kräkningar, hypotoni, trötthet, diarré och försenad utveckling.
Engelsk definition
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)
Inga svenska synonymer finns.
Familial Hyperlysinemia — Hyperlysinemia — Hyperlysinemia, Familial — Familial Hyperlysinemias — Hyperlysinemias, Familial — L-Lysine:NAD-Oxido-Reductase Deficiency — Deficiencies, L-Lysine:NAD-Oxido-Reductase — Deficiency, L-Lysine:NAD-Oxido-Reductase — L-Lysine:NAD-Oxido-Reductase Deficiencies — L Lysine:NAD Oxido Reductase Deficiency — Lysine:Alpha-Ketoglutarate Reductase Deficiency — Deficiencies, Lysine:Alpha-Ketoglutarate Reductase — Deficiency, Lysine:Alpha-Ketoglutarate Reductase — Lysine:Alpha-Ketoglutarate Reductase Deficiencies — Lysine:Alpha Ketoglutarate Reductase Deficiency — Reductase Deficiencies, Lysine:Alpha-Ketoglutarate — Reductase Deficiency, Lysine:Alpha-Ketoglutarate — 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 — Saccharopine Dehydrogenase Deficiency Disease — Deficiency Disease, Saccharopine Dehydrogenase — 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