《英文msh词典》Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
[同义词] Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
[主题词] Hyperlysinemias
[中文释义] 赖氨酸α酮戊二酸还原酶缺乏性疾病
[英文释义] 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)