Hyperlysinemias

Hyperlysinemier

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)

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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