《英文msh詞典》beta Mannosidase Deficiency
[入口詞] beta Mannosidase Deficiency
[主題詞] beta-Mannosidosis
[英文釋義] 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 itself with variety of symptoms that depend upon the type of gene mutation.