Medical Genetics

Leigh syndrome, first described by Denis Leigh in 1951, is a severe progressive neurometabolic disorder characterized by bilateral symmetric necrotic lesions in subcortical regions of the central nervous system. Originally termed subacute necrotizing encephalomyelopathy, this disorder represents a final common phenotype for various genetic defects affecting energy metabolism.

Favism is a genetic disorder that causes a severe reaction to consuming fava beans (also known as broad beans) and certain medications. This inherited condition occurs due to a deficiency in an enzyme called glucose-6-phosphate dehydrogenase (G6PD), which leads to the breakdown of red blood cells when exposed to specific triggers.