Within the broader category of lysosomal storage disorders, beta-mannosidosis (β-mannosidosis) is a very uncommon hereditary condition. Metabolic problems that lead to an accumulation of different hazardous chemicals, particularly in the lysosomal compartment of cells throughout the body, are indicative of lysosomal storage diseases. The intensity and age at which beta-mannosidosis manifests itself vary. Nearly all affected people experience some kind of intellectual handicap, and some have shown signs of delayed motor development. Other signs and symptoms can include muscle abnormalities, seizures, speech and hearing difficulties, decreased sensations in extremities, repeat ear and respiratory infections, unique facial features, and behavioral and psychiatric challenges. Beta-mannosidosis occurred by changes (variants or mutations) in the MANBA gene and is typically inherited in an autosomal recessive pattern.
E. et al. (2026) studied this question.