beta-Mannosidosis

**Definition:** An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.

**Tree numbers:** - C16.320.565.202.607.750 - C16.320.565.595.577.750 - C18.452.648.202.607.750 - C18.452.648.595.577.750

**Synonyms:** - Lysosomal beta-Mannosidase Deficiency - Mannosidosis, beta A, Lysosomal - beta-Mannosidase Deficiency - Lysosomal beta A Mannosidosis