Genetic Test
MAN2B1 encodes an enzyme that breaks down complex sugars derived from glycoproteins. When mutations occur, this function is impaired, causing oligosaccharides such as mannose to accumulate within cells, eventually damaging cellular function and leading to cell death.
Disease Description
This genetic disorder is caused by a deficiency of lysosomal enzymes that break down oligosaccharides, resulting in their accumulation in multiple organs including the brain, kidneys, and liver. The onset, severity, and progression of clinical signs are known to vary.
