beta-Mannosidosis |
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| beta-Mannosidase Deficiency; Deficiency, beta-Mannosidase; beta Mannosidase Deficiency; beta Mannosidosis; beta-Mannosidase Deficiencies; 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 itself with variety of symptoms that depend upon the type of gene mutation. | |