PMM2 (Phosphomannomutase 2)

PMM2 (Phosphomannomutase 2) is an enzyme critical for producing molecules needed to build certain complex sugars (glycans) that modify proteins and support normal cell function. Proper glycosylation is essential for the stability and activity of many proteins throughout the body. When PMM2 is deficient or malfunctioning, it disrupts this process, leading to a group of genetic disorders called Congenital Disorders of Glycosylation (CDG). These disorders can affect multiple systems in the body, causing symptoms like developmental delays, muscle weakness, and organ issues.