beta-Mannosidosis
Synonyms
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
beta-Mannosidoses
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.
See Also