Blood test can now diagnose Glut1 deficiency syndrome
Glut1 deficiency syndrome is a rare and disabling neurological disease still relatively unknown to the medical community. A mutation in the SLC2A1 gene in affected patients causes the glucose transporter GLUT1 to malfunction. Since this transporter is responsible for the…
Arrhythmogenic Cardiomyopathy: A Rare Genetic Condition
Arrhythmogenic cardiomyopathy is a very rare genetic cardiomyopathy which thought to affect 1 in 5,000 people, where the heart muscle (myocardium) is replaced by both scar (fibrosis) and fat. This can mainly affect the right ventricle but sometimes the left…
