Lysosomal beta A Mannosidosis

Lysosomal beta Mannosidase Deficiency

Lysosomal beta-Mannosidase Deficiencies

Lysosomal beta-Mannosidase Deficiency

Mannosidosis, beta A, Lysosomal

beta Mannosidase Deficiency

beta Mannosidosis

beta-Mannosidase Deficiencies

beta-Mannosidase Deficiency


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.