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)
推出的年份: 2000
树号: C10.228.140.163.100.380, 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 单一 ID: D020167
进入的组:
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
早前的内容:
Amino Acid Metabolism, Inborn Errors (1965-1999)
Lysine/metabolism (1966-1999)
留言 (0)