《英文msh词典》Mannosidosis,beta A,Lysosomal
[同义词] Mannosidosis,beta A,Lysosomal
[主题词] beta-Mannosidosis
[英文释义] 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.