The<unk>  protein that transports glucose across the blood brain barrier is made by the SLC2A1 gene, located on chromosome 1. In<unk>  Syndrome one of the two genes is damaged by a mutation and insufficient protein is made. As a result, insufficient glucose is passing the blood brain barrier. Having less functional<unk>  protein reduces the amount of glucose available to brain cells, which affects brain development and function. Because glucose is the primary source of fuel for the brain, patients with<unk>  have insufficient cellular energy to permit normal brain growth and function. Around 90% of cases of<unk>  syndrome are de novo mutations of the SLC2A1 gene (a mutation not present in the parents, but present in one of the two copies of the gene in the baby), although it can be inherited.<unk>  can be inherited in an autosomal dominant manner. A person with<unk>  syndrome has a 50% chance of passing along the altered SLC2A1 gene to his or her offspring.
GLUT1 deficiency
Glutaminase deficiency
Glycerol kinase deficiency
WNT4 deficiency
Multiple carboxylase deficiency
Pyruvate kinase deficiency
2,4 Dienoyl-CoA reductase deficiency
NGLY1 deficiency