beta-Mannosidosis

Betamannosidos

Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

beta Mannosidosis beta-Mannosidoses Lysosomal beta A Mannosidosis beta-Mannosidase Deficiency beta Mannosidase Deficiency beta-Mannosidase Deficiencies Lysosomal beta-Mannosidase Deficiency Lysosomal beta Mannosidase Deficiency Lysosomal beta-Mannosidase Deficiencies Mannosidosis, beta A, Lysosomal