Followed for 90 days with a preliminary diagnosis of severe asphyxia and metabolic diseases in the intensive care unit of newborns, the case’s peripheral blood samples were sent to the genetic laboratory in terms of GLUT defects and sequence analysis of the SLC2A1 gene by next generation sequencing system (Miseq-Illumina - San Diego) was performed. The gene discussed is SLC2A1; the disease is Other metabolic disease.