Hyperlysinemia is a rare hereditary amino acid metabolic disease, which can only be diagnosed by expensive tandem mass spectrometry and other techniques in clinic.
However, most patients have experienced misdiagnosis, and the age of diagnosis is mostly 5- 10 years old. Hyperlysinemia can be divided into type ⅰ and type ⅱ. Usually, the clinical symptoms of type I patients are not obvious, but the concentration of lysine in blood is high; In patients with type ⅱ, besides the increase of lysine concentration, the concentration of yeast amino acids also increased. Patients will show severe nerve damage and developmental retardation, and most patients will die before adulthood.
Extended data:
After decades of research, scientists have finally figured out the pathogenic genes of high lysine, and also clearly understood how the main lysine degradation pathway in human body-yeast lysine pathway works. However, the pathogenesis of hyperlysinemia is "confused".
Therefore, Yang Laboratory of Yunnan University/Institute of Genetics and Developmental Biology of Chinese Academy of Sciences and Guo Laboratory of Institute of Genetics and Development conducted basic research on classical model organisms Caenorhabditis elegans and mice, and found that the accumulation of lysine metabolite yeast acid destroyed the mitochondrial homeostasis and affected the development, thus clarifying the pathogenesis of human high lysine.
Baidu Encyclopedia-Hyperlysinemia
Science Network-Hyperlysinemia Caused by Mitochondrial Instability